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Genitourinary/Reproductive

Terms in this set (30)

D)

Lower levels of estrogen are associated with skin aging, most probably because of telomeres shortening. The effects of reduced estrogen levels cause loss of elasticity, reduced water holding capacity, thickness, increased pigmentation, decreased vascularity in the skin, and facial hair. Some of those signs are found in your patient.

Your patient has no ovaria, and testosterone is primarily secreted in the ovaries (small amounts are also secreted by the adrenal glands). Too much testosterone will cause excessive oiliness and acne rather than accelerated aging of the skin.

Testosterone levels in this woman are decreased after the removal of the uterus and ovaries. Symptoms related to her skin are not characteristics of decreased testosterone levels. More often in decreased testosterone there will be a loss of muscle strength and mass, accumulation of fat, especially around the abdomen, osteoporosis, vaginal dryness, etc.

High levels of estrogen can be found in women who are pregnant, extremely overweight, have diabetes, or have liver disease. They are sometimes associated with acne, red flushed appearance, spider nevi, etc. Skin changes in this patient cannot be attributed to high estrogen.

Insulin resistance is a condition when insulin becomes less effective at lowering blood sugars. It can lead to weight gain and estrogen hyperproduction, resulting in skin changes attributable to high estrogen levels (acne, red flushed appearance, spider nevi, etc). Skin changes in this patient cannot be attributed to the high estrogen.
B)

The combination of hypogonadism, long extremities, decreased intelligence, and behavioral problems makes Klinefelter syndrome (also referred to as XXY syndrome, 47,XXY, and Klinefelter's syndrome) the most likely diagnosis. The original syndrome, as described by Dr. Klinefelter, consisted of gynecomastia, testicular atrophy, and infertility. Intelligence profiles can range from specific learning disabilities (language learning or reading impairment most common) to frank mental retardation/intelligence disability (MR/ID). The only constant feature of the syndrome is testicular atrophy with resulting azoospermia and infertility. The atrophy of the testis is the result of fibrosis, which begins to appear in childhood and progresses until all the seminiferous tubules are replaced by fibrous tissue. In males presenting with gynecomastia, MR/ID, and eunuchoidism (i.e., loss of male secondary sexual characteristics, small penis, loss of body hair, and a high-pitched voice), Klinefelter syndrome should be at the top of the list in the differential diagnosis.

Most patients with Klinefelter's syndrome have 47 chromosomes instead of the normal 46 chromosome karyotype. The extra chromosome is an X chromosome, making the sex chromosome constitution XXY instead of XY. Klinefelter's syndrome is one of the most common chromosome abnormalities seen in males and occurs in 1 in 300 of the male population. Patients with this syndrome show that the Y chromosome is strongly sex-determining; thus, a patient who has an XXY chromosome constitution may have the appearance of a normal male, with infertility being the only incapacity, while the loss of a Y chromosome leads to the development of a bodily form that is essentially feminine.

Fragile X syndrome is incorrect, as it is characterized by prominent jaw, large ears with soft cartilage, and macroorchidism in pubertal male patients.

Turner syndrome (XO) is incorrect, as it is a genetic condition of females patients; it is usually characterized by a short stature, increased distance between the nipples, low hairline, low set ears, a webbed neck, amenorrhea, and sterility.

Triple X syndrome (XXX) is incorrect. This condition only occurs in female patients.

XYY syndrome (XYY) is incorrect. In this condition, IQ is normal, and there is normal sexual development as well as normal fertility.
C)

Fifth disease is caused by human parvovirus B19, which is a DNA virus. Fifth disease, also called erythema infectiosum, is usually a mild exanthem of childhood, but infection of a pregnant woman can have severe fetal complications

Fetal (transplacental) infection with parvovirus B19 can result in a variety of fetal complications, including fetal loss, especially if the infection is between gestational weeks 10 and 20. A common complication includes fetal hydrops; it is caused by damage to fetal hematopoietic tissue, and it causes severe anemia and a resultant congestive heart failure. The virus can also cause a fetal viral myocarditis, which further worsens cardiac function and fetal hydrops. More rarely, first trimester infections with parvovirus B19 can cause teratogenic effects, including multiorgan abnormalities.

Between 30-60% of adults are immune to parvovirus B19, as evidenced by the presence of IgG to B19 in their serum; therefore, most pregnant patients are probably immune to this virus. However, if a pregnant patient develops a rash or aplastic crisis that may be consistent with fifth disease, then igG and IgM serologies for parvovirus should be drawn to evaluate for acute infection.

If parvovirus B19 infection is diagnosed in a pregnant patient, then her physician may choose to follow her with serial fetal ultrasounds to evaluate for the development of fetal hydrops. In some cases, fetal umbilical cordocentesis has been used to detect fetal infection.

In children, fifth disease is characterized by a classic "slapped-cheek" facial erythema; it is associated with fever and often GI or other systemic symptoms. Adult patients will demonstrate a rash. The rash may be reticular, morbilliform, or even purpuric. Adult patients often have fever, lymphadenopathy, and/or arthritis. Parvovirus B19 is also associated with an acute transient aplastic crisis.

Unfortunately, fifth disease is infectious for days before the onset of the rash; thus, many obstetrical patients may be exposed, particularly if they work closely with children. The virus is spread by aerosolized respiratory droplets, and it has an incubation period of 4 to 14 days.
B)

The symptoms of high fever with chills, nausea, vomiting, and back pain with tenderness in the renal angle are classic for pyelonephritis. It is a common condition in young women. The common organisms are gram negative, for example E.coli, klebsiella, proteus, enterobacter, and pseudomonas. Gram positive bacteria, like staphylococcus aureus and enterococcus fecalis, may also be seen. The usual mode of infection is ascent from the lower urinary tract, except for staphylococcus aureus, which is hematogenously spread. Leukocytosis with a left shift and abnormal urine with pyuria and bacteriuria confirm the condition. Absence of pyuria should be an indication to look for an alternative diagnosis. Hematuria may also be present. Blood and urine cultures should be done. Imaging may be needed in complicated cases, in which scenario an ultrasound may reveal hydronephrosis due to obstruction from a calculus or other causes. It is generally recommended that all males with acute pyelonephritis undergo imaging with ultrasound or CT scan, since such an infection is usually associated with an anatomical abnormality like enlarged prostate, etc. A long urethra and absence of organisms residing in vagina makes it unusual for men to have a urinary infection with a normal anatomy. Treatment should be started empirically without waiting for culture results, since they are usually not available immediately, and as they become available, antibiotics may be changed accordingly. Urine gram stain, which is available right away, may be a useful tool to direct antibiotic treatment. Indications for hospitalization include vomiting, pregnancy, HIV disease, diabetes, impending septic shock with unstable vitals, and other comorbidities like renal failure, post transplant, etc. It should be treated with oral fluoroquinolone or trimethoprim-sulfamethoxazole for mild to moderate disease and IV ceftriaxone or a fluoroquinolone for hospitalized patients, to be substituted with oral antibiotics after improvement in symptoms. Total duration of antibiotics should be 10-14 days. Prognosis is usually good if diagnosis is prompt, treatment appropriate, and complications absent.
Acute cystitis is a milder disease, which is more common in women than men due to a short urethra and proximity to vagina with its abundance of micro-organisms. About 50-60% adult women have had a urinary tract infection in their lives at some point. 10% postmenopausal women also have been found to get these infections. Coitus seems to be a predisposing factor, and symptoms quite often arise after sexual intercourse (honeymoon cystitis). The offending organisms include gram negative bacteria, such as E.coli, in 80-85% cases in women; it is also common in men. Most of the other cases in women are due to staphylococcus saprophyticus, though this is uncommon in case of males. This is a coagulase negative staphylococcus, which is normally considered benign but is actually a true urinary pathogen and should not be ignored. Rarely, klebsiella, proteus, enterococci, etc. may be isolated. Symptoms include low grade fever, dysuria, urgency, increased frequency of urination, and suprapubic abdominal pain. Occasionally women may have gross hematuria. There is suprapubic tenderness on examination without costovertebral angle tenderness. Urinalysis shows pyuria, bacteriuria, and hematuria. Hematuria is absent in female patients with urethritis and vaginitis, which can cause similar symptoms and can be used to differentiate the conditions. Urine culture is usually positive for the causative organism. Treatment is based on culture reports. Uncomplicated cystitis in women can be treated with a 3-day course of trimethoprim-sulfamethoxazole, trimethoprim alone, fluoroquinolone, or cephalexin. A 7-day course of nitrofurantoin is also adequate. Men should be evaluated for underlying conditions since uncomplicated cystitis is uncommon in males. A 7-day course is recommended even for uncomplicated cases in men.

Acute gastroenteritis, or food poisoning, has a similar picture but without costovertebral angle tenderness. Diffuse abdominal pain and watery diarrhea are the predominant symptoms. Fever may be low grade or high grade. UA is usually normal.

Acute salpingitis, or pelvic inflammatory disease, is characterized by lower abdominal pain and tenderness, abnormal vaginal discharge and/or bleeding, dyspareunia with adnexal tenderness, and cervical motion tenderness on a pelvic examination. An acute episode may present with high fever and chills, profuse vaginal discharge, and severe lower abdominal pain. Leukocytosis is found in less than 50% patients; UA is mostly normal, and culture of the vaginal fluid should be done. Treatment is with broad spectrum antibiotics.

Acute diverticulitis is usually left sided and manifested by left lower quadrant abdominal pain and tenderness with diarrhea and occasionally low grade fever without chills. Leukocytosis may be present with sterile pyuria sometimes. The patient does not have back pain or costovertebral angle tenderness and seems well hydrated. Treatment is with ciprofloxacin and metronidazole for 7-10 days.
C)

The correct response is a breast cancer screen.

Being 52 years old and having vaginal adenomatosis, structural malformation of the reproductive tract, and problems with her pregnancies, this patient most probably was exposed to DES (diethylstilbestrol). In the 1950s and early 1960s, DES was prescribed for early pregnancy bleeding. The exposure to DES in utero before 18 weeks of pregnancy interferes with the growth and development of the uterus, cervix, vagina, and fallopian tubes, but many women are not aware of having been exposed. Exposure also raises the risk of otherwise rare, clear cell adenocarcinoma of the vagina and cervix. Patients may have an ectopic pregnancy, premature birth, infertility, or other pregnancy complications. They need a yearly exam (colposcopy and cytology), even after a hysterectomy or menopause.

DES exposure in utero also is associated with an increased risk of breast cancer. Over age 40, the risk of breast cancer is 2 times higher than in unexposed women; after age 50, the risk is even higher. Women who took DES during pregnancy also have an increased risk of breast cancer. Both groups (mothers and daughters) should be screened by mammography.

Dilation and curettage (D & C) is a diagnostic gynecological procedure, commonly performed to resolve cases of abnormal uterine bleeding or as a method of abortion.

The human papilloma virus (HPV) vaccine does not treat HPV or cervical cancer; it prevents infection with certain species of human papilloma virus associated with the development of cervical cancer, genital warts, and some less common cancers. It is recommended for female patients who are 9 - 26 years of age, girls and boys age 11 and 12 years, and those 13 - 21 years of age who have not been previously immunized. Men who are 22 - 26 years of age may be vaccinated; men in this age group who have sex with men should receive the vaccine.

Metronidazole is an antibiotic, amebicide, and antiprotozoal given for symptomatic (and often asymptomatic) trichomoniasis, as well as other inflammatory processes (i.e., endometritis, endomyometritis, tubo-ovarian abscess) and infections caused by succeptible organisms. Trichomoniasis will present with copious green, frothy vaginal discharge. Diagnosis can be made via a wet mount ('corkscrew' motility of the organisms) or via overnight culture (sensitivity of 75 - 95%). Rapid antigen testing, transcription-mediated amplification, and PCR have even greater sensitivity, but are not in widespread use.

The triple screen test is performed in the 2nd trimester of pregnancy to estimate a risk of chromosomal abnormalities and neural tube defects. It detects serum levels of alpha-fetoprotein, estriol, and beta-hCG in maternal serum.
A)

Bedwetting, or enuresis, is a common problem in the pediatric age group. Prevalence at the age of 5 years is 7% in boys and 3% in girls. At the age of 10 years the prevalence is 3% for males and 2% in females. Enuresis is divided into primary enuresis, where the child has never been dry at night, and secondary enuresis, where the child who has been continent for at least 6 months starts to wet the bed again. Primary nocturnal enuresis is associated with a smaller bladder capacity, abnormal arousal patterns during sleep, and inappropriate or inadequate toilet training. Secondary enuresis is generally precipitated by situations of psychological stress, such as a recent move, marital conflict, or a new sibling in the household. Only rarely does enuresis have an organic component; usually urological procedures are not warranted.

General treatment guidelines that patients and especially the parents should be educated on include voiding before retiring, limiting fluids prior to bedtime, and expecting older children to clean their own bedding.

More often than not, the first line intervention is considered bed-wetting alarms. These have been found in multiple studies to be extremely effective in producing a long-term cure. The bed-wetting alarms are moisture-sensing devices that are placed near the child's genitals, and are activated to trigger an alarm when the child voids in bed. These alarms go off at the initial first few drops of voiding, thereby awakening the child to get out of bed and finish voiding in the toilet or hold urine until later. This evokes a conditioned response of waking and inhibiting urination. They are generally recommended in children older than seven years. Therapy is recommend for at least three months and used every night. Parents must get up with the child to ensure the child does not just turn off the alarm and go back to sleep. If used appropriately, bed-wetting alarms are successful in 2/3 of the patients that utilize them.

Alarm therapy requires a cooperative, motivated child and family. Parental involvement plays an essential role when using alarm devices due to the consistency that is necessary. Treatment must involve education and avoidance of being judgmental and even shaming the child due to most children feeling ashamed; the goal of treatment is to help the child establish their continence and at the same time maintain or gain self-esteem.

It is recommended that children use these alarm devices until they experience three weeks of complete dryness. For complete resolution of nocturnal enuresis, the bed-wetting alarm may be needed to be used for up to 15 weeks. Relapse rates are higher when the alarm system is discontinued after shorter dry periods. Studies have shown that compared with other skill-based or pharmacologic treatments, the bed-wetting alarm has a higher success rate (75%) and a lower relapse rate.

Desmopressin and imipramine are the primary drugs used in the treatment of nocturnal enuresis but should not be considered first line interventions. Imipramine administration is only slightly less effective than the alarm systems in bringing about dryness, usually within 2 weeks. Long-term results are less promising, as the enuresis tends to return while off the medication.

Desmopressin acetate typically has an excellent response over the short-term, but again, the enuresis tends to recur when the child is taken off the medication.

Fluid restriction and wearing diapers at night may resolve the consequences of the issue but will not create the behavior which will lead to the actual bedwetting from stopping; behavioral modification/training is a main key to treatment.
E)

This patient has polycystic ovary syndrome. PCOS, also known as Stein-Leventhal syndrome, is an endocrine condition present in 5 - 10% of women of reproductive age. It is the most common cause of infertility in women. It is referred to as polycystic because most women with the condition have a number of small cysts in the ovaries; however, it is the characteristic constellation of signs, symptoms, and biochemical aberrations, rather than the presence of the cysts themselves, that is important in establishing the diagnosis. These include dysfunctional uterine bleeding (DUB) due to estrogen breakthrough bleeding, hyperandrogenism, insulin resistance, and often obesity. Each plays a role in the evolution of an oligo-ovulatory state. It most commonly affects women ages 15 - 20, and is characterized by high estrogen and androgen levels resulting in virilization (hair growth and acne), chronic menstrual irregularities, and infertility. Although the exact mechanism is yet to be determined, it is thought to involve a disorder of the hypothalamic-pituitary axis, in which excess luteinizing hormone (LH) and androgen production causes virilization and anovulation (with cyst formation) in the ovary.

Hyperandrogenism and virilization can be seen in the presence of a testosterone-secreting tumor of the ovary or adrenal, but this patient's long history of oligomenorrhea makes this less likely.

Increased exogenous estrogen (associated with obesity) is likely to contribute to this patient's anovulatory state, but there is no evidence to suggest that she has been exposed to exogenous estrogen.

A similar bleeding pattern can be seen with progestin-only contraception (e.g., Depo-Provera or a progestin-only birth control pill), but such hormonally-related bleeding would be due to progesterone breakthrough rather than estrogen breakthrough. This patient desires pregnancy and has not been exposed to exogenous progestin.

Thyroid dysfunction may also cause anovulation through dysregulation of a feedback loop that results in increased prolactin levels; however, this patient's long history, which includes hyperandrogenism (acne and excess hair growth) and obesity, make this diagnosis less likely.

Women with PCOS are at risk for cardiovascular illness and diabetes mellitus. They are also at increased risk for endometrial hyperplasia and endometrial cancer because of long-term unopposed estrogen stimulation of the endometrium.
B)

This patient most likely has urge incontinence.

In urge incontinence, patients typically have involuntary leaks, increased urinary frequency, and nocturnal incontinence either during or just after the sensation of needing to void. Symptoms are not exacerbated by increased abdominal pressure or the stress of coughing/sneezing. Bladder detrusor muscles may be overactive, leading to the unexpected release of urine. Treatments include scheduled voiding and anticholinergic medications (oxybutynin, etc.).

Stress incontinence is characterized by the involuntary leaking of urine during stress or increases in abdominal and bladder pressure, such as coughing and sneezing. Bladder pressure at these times exceeds urethral pressure, allowing urine to leak through the urethra. Urinary tract deficits are found commonly in older patients; both men and women have decreased bladder sensation, decreased contractility, and involuntary bladder contractions, which predispose them to incontinence.

Obesity, pregnancy, and vaginal births may increase the risk for stress incontinence. In such cases, the pelvic floor muscles may be insufficiently strong to support the urethra and overcome pressure of urine flowing from the bladder.

Mixed incontinence refers to the presence of symptoms of both stress and urge incontinence. It may be seen in 1/3 of patients.

Overflow incontinence refers to urinary leaks that occur due to an obstruction of urine flow. In the absence of urinary retention, post void residuals are typically elevated; normal post-void residuals in the absence of retention are less than 200 ml. His 30 ml post-void urine volume is not consistent with urinary retention. Initially, patients with urinary retention may experience dribbling after voids, straining, the sensation of a full bladder, and a constant urge to void. Prostatic hypertrophy, atonic bladders, etc. can impede urine flow. Once urine volume exceeds bladder capacity, it may spill out, causing a leak. Overflow incontinence may be distinguished from urge incontinence by urodynamic testing, and it may be treated with terazosin and finasteride.

Many medical problems and medications can contribute to incontinence. Delirium, restricted mobility, urinary infection, fecal impaction, polyuria, and medications that decrease urethral pressure (e.g., alpha blockers, neuroleptics, and benzodiazepines) or increased bladder pressure (e.g. anticholinergics, beta blockers, anti-Parkinson's medications, and bethanechol) may contribute to incontinence.

The normal rectal examination and the history of regular bowel movements make fecal impaction a less likely diagnosis in this case.
B)

Testicular cancer is the most common cancer of young men between 15 and 34 years of age, and it is 4.5 times more common among Caucasian men then African Americans. 12% will have a history of cryptorchidism. Tumor presents commonly as a circumscribed, nontender area of induration within the testes that does not transilluminate. However, sometimes pain may be associated with torsion of the tumor, infarction, or bleeding into the tumor. The most common complaint is a feeling of fullness or heaviness in the scrotum. In most cases, the epididymis and spermatic cord feel normal. Advanced tumors are diffusely enlarged and can be rock hard. Ultrasound is a sensitive and specific test that can discriminate between testicular neoplasm and other nonmalignant disorders. Additional tests for tumor markers and staging are indicated. All patients undergo orchiectomy with close observation for early stage tumors, and there is chemotherapy and radiation for others. Either way, the prognosis is generally excellent.

Testicular torsion will usually present with abrupt onset of acute testicular pain, swelling, and erythema. Torsion occurs because the attachments between the epididymis and the tunica vaginalis are loose, allowing the testis to twist on its vascular pedicle compromising blood flow. This is also known as the bell-clapper deformity. The cremasteric reflex is absent and lack of pain relief with gentle elevation of the affected testis is suggestive. Treatment consists of rapid surgical detorsion and fixation of the testis to the scrotal wall (orchiopexy) before irreversible testicular necrosis occurs.

Varicocele is a dilatation of the venous plexus of the spermatic cord and affects about 20% of adolescents and male young adults. A palpable mass, which feels like a 'bag of worms', can be felt above the testis. Varicoceles rarely cause pain. It is most evident in a standing position; it collapses while supine. If there is progressive discomfort or a discrepancy in testicular volume with possible effects on fertility, a urological referral for surgical repair is indicated.

Epididymitis is usually associated with a urinary tract anomaly; however, it can be caused by a virus or bacteria, it is commonly caused by Chlamydia trachomatis.

Acute epididymitis is characterized by severe pain, tenderness, and swelling of the testes. Urinalysis and culture will typically be abnormal.

Trauma may cause an overlying hematocele, swelling of the scrotum, and poor transillumination; in general, it will cause ecchymosis. Although this patient experienced precipitating trauma, there is no evidence of swelling or ecchymosis to indicate traumatic hematocele alone. Testicular trauma is usually an event that is indelibly inscribed in the memory of the victim, and it can be recited with much precision. Traumatic hematoceles are best managed with surgical exploration, evacuation, and repair of the testis.
A)

Calcium oxalate stones are the most common type of renal stones or nephrolithiasis.

Nephrolithiasis is a common problem, affecting some 2 - 9% of the population.

Patients with nephrolithiasis are likely to have recurrent episodes. 40 - 50% of patients are likely to have recurrent stones after an episode of nephrolithiasis.

According to Pietrow, each of the following stone types is seen with the following frequency:

Calcium oxalate (70%)
Calcium phosphate (5 - 10%)
Uric acid (10%)
Struvite (magnesium ammonium phosphate) (15 - 20%)
Cystine (1%)
Crystals form in urine when the urine is supersaturated with crystal-forming solutes such as calcium, phosphate, and uric acid. Some patients overexcrete solutes; others drink inadequate amounts of fluids to keep solutes dissolved.

Stones also occur when the urine is infected with urea-splitting bacterium. Here, urea is broken down into ammonia and bicarbonate, which then forms ammonium hydroxide and bicarbonate, which are the components of struvite stones.

Struvite stones consist of a triple phosphate of calcium, magnesium, and ammonium.

Certain stone inhibitors, such as pyrophosphate, citrate, and magnesium, prevent crystal growth. In patients who have low levels of these inhibitors, stones are more likely to form.

Stone prevention focuses on adequate hydration and dietary moderation of foods likely to cause stones. Specifically, decreased sodium and dairy products are recommended for patients with calcium stones; decreased liver and purine rich foods are recommended for patients with uric acid stones; and decreased of nuts, chocolate, some vegetables (beets and spinach) is recommended for patients with oxalate stones. Citrate supplementation is used in patients with low levels of urinary citrate, a stone inhibitor. Thiazides may be used to treat hypocalciuria in patients who overexcrete calcium.
D)

This patient's described ovarian cysts are simple and related to follicular development. Moderate-dose combined oral contraceptives have been shown to reduce ovarian cysts in population studies. Although a mechanism of oral contraceptives is suppression of ovulation, birth control pills do not treatexisting ovarian cysts. Furthermore, the lower-dose regimens on the market currently do not appear to lower the overall incidence of ovarian cysts and achieve prevention of cysts. Starting this patient on a moderate-dose combined oral contraceptive pill is reasonable, especially if indicated for prevention of pregnancy or other reasons.

Performing a monthly ultrasound may identify early cysts, but doing so will not prevent them. Ultrasounds often show incidental functional cysts in the ovaries of asymptomatic women. Ultrasound would be indicated in a symptomatic patient or to follow a concerning cyst to resolution. Once resolved, this imaging is neither necessary nor cost-efficient.

Insertion of a levonorgestrel intrauterine system (Mirena) is indicated for prevention of pregnancy and menorrhagia. The primary effect of the progestin, levonorgestrel, is intrauterine; therefore, ovarian function is generally unaffected. A levonorgestrel intrauterine system would not reduce ovarian cyst recurrence.

Folic acid supplementation has long been recommended for women with cervical dysplasia, but few studies have actually confirmed that supplementation reverses dysplasia. Furthermore, there are neither recommendations nor evidence for folic acid supplementation preventing ovarian cysts.

Testing for CA-125 should be done in women with current ovarian cancer or an ovarian mass suggestive of an ovarian cancer. This patient denies current symptoms; she is young and described simple ovarian cysts, which resolved.
C)

Testicular torsion in the adolescent boy is a urologic emergency, the most common cause of acute scrotal swelling and pain, and the most common cause of testicular loss. Torsion occurs in 1:4000 and occurs most commonly on the left side in the United States. The cause is a congenital anomaly that occurs in approximately 12% of boys/men, in which the tunica vaginalis is attached too high, allowing the testicle to rotate freely on the spermatic cord and vascular pedicle in the tunica vaginalis. Approximately 40% of boys/men have the anomaly bilaterally. Testicular torsion usually occurs between 12 and 18 years of age with the peak age of 14. It may occur up to 30 years of age, and it is found in infants and occasionally neonates at the time of birth. Up to 50% of patients may have had prior episodes of mild intermittent testicular pain that has resolved spontaneously, due to intermittent torsion and spontaneous derotation. Associated symptoms may include nausea and vomiting (20%), fever (16%), abdominal pain (20 - 30%), and urinary frequency (4%). Physical examination may demonstrate a horizontal position of the testis, and it may be elevated compared to the uninvolved side. The cremasteric reflex is usually absent, but its presence does not rule out testicular torsion. Elevation of the scrotum does not relieve the pain. The diagnosis is a clinical diagnosis. Because it consumes precious time, ultrasound examination of the testis with color flow Doppler should only be ordered when the diagnosis is uncertain, and it can determine if there is blood flow to the testis. The studies are 86% sensitive and 100% specific in making the diagnosis if the only criterion is decreased blood flow. Radionuclide scans are 90 - 100% accurate in identifying decreased blood flow. Rapid diagnosis is critical; if surgical intervention is provided within 6 hours of onset, the salvage rate for the testis is 80 - 100%; after 6 hours, the salvage rate is approximately 0%.

Acute idiopathic scrotal edema is uncommon, but presents acutely with the average age of presentation 6 years. 90% of patients have a unilateral presentation. The scrotal skin is red and tender, but the testis appears to be normal. The redness tends to extend off the scrotum onto the perineum or onto the penis. This tends to resolve spontaneously in 48-72 hours and leaves no sequelae. Doppler ultrasound, if done, demonstrates good blood flow to the testis with peritesticular edema and fluid in the scrotal wall. Laboratory examination is normal except for occasional eosinophilia.

Acute epididymitis and/or orchitis is not a common pediatric diagnosis. It was first described in 1956. The onset tends to be more gradual, generally over a few days, with fever and dysuria. Elevation of the scrotum may reduce discomfort. The cause may be viral, such as adenovirus, mumps, or Epstein-Barr virus, or bacterial. Bacterial infection is often associated with structural changes in the urinary tract. Urinalysis and urine culture may be helpful in establishing the diagnosis. Typical treatment is with rest, analgesia, and antibiotics if there is concern about a bacterial etiology. If a bacterial cause is identified, urinary tract imaging should be performed. There have been rare reports of acute epididymitis progressing to testicular infarction.

Torsion of the appendix testis may present similarly to testicular torsion. Tenderness is usually localized to the upper portion of the testis; typically, a blue dot is seen on the scrotal skin resulting from the venous congestion in the appendix testis. This is a self-limited condition and does not require surgical intervention. There are 5 appendages to the testis, all of which serve no function. If 1 twists or infarcts, symptoms result. Pain is less intense than with testicular torsion, and the cremasteric reflex is usually present.

Varicocele occurs in 10 - 15% of males, 16% of adolescents, and 20 - 40% of men evaluated for infertility. First described in adolescents in 1885, the most common age of presentation is adolescence and early adulthood. They are caused by incompetent or absent valves of the spermatic veins, resulting in dilatation of the veins of the pampiniform plexus. Rarely are they caused by compression of the renal vein by a tumor, an aberrant renal artery, an obstructed renal vein. Doppler ultrasonography can demonstrate retrograde blood flow. They are most common on the left side, are usually asymptomatic, but may present with vague scrotal discomfort and swelling. Of those with symptoms, 2% have intratesticular Varicocele and these are more common on the right side. The typical physical finding is the bag of worms within the scrotal sac. They may be missed on physical examination if the supine position, so the patient should be examined in a standing position. Patients should be referred to urologists for further evaluation and to discuss options for treatment; it sometimes, but not always, requires surgery.
A)

The symptoms of high fever with chills, nausea, vomiting, and back pain with tenderness in the renal angle are classic for pyelonephritis. It is a common condition in young women. The common organisms are gram negative, for example E.coli, klebsiella, proteus, enterobacter, and pseudomonas. Gram positive bacteria, like staphylococcus aureus and enterococcus fecalis, may also be seen. The usual mode of infection is ascent from the lower urinary tract, except for staphylococcus aureus, which is hematogenously spread. Leukocytosis with a left shift and abnormal urine with pyuria and bacteriuria confirm the condition. Absence of pyuria should be an indication to look for an alternative diagnosis. Hematuria may also be present. Blood and urine cultures should be done. Imaging may be needed in complicated cases, in which scenario an ultrasound may reveal hydronephrosis due to obstruction from a calculus or other causes. It is generally recommended that all males with acute pyelonephritis undergo imaging with ultrasound or CT scan, since such an infection is usually associated with an anatomical abnormality like enlarged prostate, etc. A long urethra and absence of organisms residing in vagina makes it unusual for men to have a urinary infection with a normal anatomy. Treatment should be started empirically without waiting for culture results, since they are usually not available immediately and, as they become available, antibiotics may be changed accordingly. Urine gram stain, which is available right away, may be a useful tool to direct antibiotic treatment. Indications for hospitalization include vomiting, pregnancy, HIV disease, diabetes, impending septic shock with unstable vitals, and other comorbidities like renal failure, post transplant, etc. It should be treated with oral fluoroquinolone or trimethoprim-sulfamethoxazole for mild to moderate disease and IV ceftriaxone or a fluoroquinolone for hospitalized patients, to be substituted with oral antibiotics after improvement in symptoms. Total duration of antibiotics should be 10-14 days. Prognosis is usually good if diagnosis is prompt, treatment appropriate, and complications absent.

Acute cystitis is a milder disease, which is more common in women than men due to a short urethra and proximity to vagina with its abundance of micro-organisms. About 50-60% adult women have had a urinary tract infection in their lives at some point. 10% postmenopausal women also have been found to get these infections. Coitus seems to be a predisposing factor, and symptoms quite often arise after sexual intercourse (honeymoon cystitis). The offending organisms include gram negative bacteria, such as E.coli, in 80-85% cases in women; it is also common in men. Most other cases in women are due to staphylococcus saprophyticus, though this is uncommon in case of males. This is a coagulase negative staphylococcus, which is normally considered benign but is actually a true urinary pathogen and should not be ignored. Rarely, klebsiella, proteus, enterococci, etc. may be isolated. Symptoms include low grade fever, dysuria, urgency, increased frequency of urination, and suprapubic abdominal pain. Occasionally women may have gross hematuria. There is suprapubic tenderness on examination without costovertebral angle tenderness. Urinalysis shows pyuria, bacteriuria, and hematuria. Hematuria is absent in female patients with urethritis and vaginitis, which can cause similar symptoms and can be used to differentiate the conditions. Urine culture is usually positive for the causative organism. Treatment is based on culture reports. Uncomplicated cystitis in women can be treated with a 3-day course of trimethoprim-sulfamethoxazole, trimethoprim alone, fluoroquinolone, or cephalexin. A 7-day course of nitrofurantoin is also adequate. Men should be evaluated for underlying conditions since uncomplicated cystitis is uncommon in males. A 7-day course is recommended even for uncomplicated cases in men.

Acute gastroenteritis, or food poisoning, has a similar picture but without costovertebral angle tenderness. Diffuse abdominal pain and watery diarrhea are the predominant symptoms. Fever may be low grade or high grade. UA is usually normal.

Acute salpingitis, or pelvic inflammatory disease, is characterized by lower abdominal pain and tenderness, abnormal vaginal discharge and/or bleeding, dyspareunia with adnexal tenderness, and cervical motion tenderness on a pelvic examination. An acute episode may present with high fever and chills, profuse vaginal discharge, and severe lower abdominal pain. Leukocytosis is found in less than 50% patients; UA is mostly normal and culture of the vaginal fluid should be done. Treatment is with broad spectrum antibiotics.

Acute diverticulitis is usually left sided and manifested by left lower quadrant abdominal pain and tenderness with diarrhea and occasionally low grade fever without chills. Leukocytosis may sometimes be present with sterile pyuria. The patient does not have back pain or costovertebral angle tenderness and seems well hydrated. Treatment is with ciprofloxacin and metronidazole for 7 - 10 days.
A)

Streptococcus pyogenes (group A beta-hemolytic) cause 3 types of diseases: 1) pyogenic diseases, such as pharyngitis and cellulitis, 2) toxigenic diseases, such as scarlet fever and toxic shock syndrome, and 3) immunologic diseases, such as rheumatic fever and acute glomerulonephritis. Glomerulonephritis occurs especially following skin infections.

Streptococcus pneumoniae are Gram-positive lancet-shaped cocci arranged in pairs (diplococci) or short chains. On blood agar, they produce alpha-hemolysis. Virulence factors of Pneumococci are polysaccharide capsules. Pneumococci cause pneumonia, bacteremia, meningitis, and infections of the upper respiratory tract, such as otitis and sinusitis. Mortality rate is high in elderly, immunocompromised (especially splenectomized), and/or debilitated patients. They should be immunized with the polyvalent polysaccharide vaccine.

Peptostreptococci grow under anaerobic or microaerophilic conditions and produce variable hemolysis. Peptostreptococci are members of the normal flora of the gut and female genital tract and participate in mixed anaerobic infections of the abdomen, pelvis, lungs, and brain.

Streptococcus agalactiae (group B streptococcus) colonize the genital tract of some women and can cause neonatal meningitis and sepsis. They are usually bacitracin-resistant.

Enterococcus faecalis (group D streptococcus), formerly known as Streptococcus faecalis, are part of the normal flora in the gut. They can cause urinary, biliary, and cardiovascular infections.
A 48-year-old Caucasian woman presents due to feeling like she is losing her mind. She wants some tests done. Upon further questioning, she reports she is having multiple episodes daily in which she suddenly becomes very hot, flushed, and diaphoretic. These episodes last about 1 minute, then resolve. She has not measured a fever. The patient reports that the episodes occur during the day and at night, in which she awakes drenched with sweat. As a result, her sleep has been poor, and she feels fatigued and irritable at both work and home. She has noticed these symptoms for about the last 2 months, and they seem to be increasing in severity. The patient has not had a period for 3 months; she recently did a home pregnancy test, which was negative. Prior to that, she had regular menses. This patient denies weight changes; palpitations; cold intolerance; bowel changes; as well as changes in her nails, skin, and hair. Although she admits irritability, she denies anxiety, depressed mood, and suicidal ideation.

Her family history is remarkable for diabetes in her maternal grandfather and hypertension in her father. She is a G4P3Ab1. She denies any major psychosocial stressors recently. She drinks alcohol rarely, and she denies use of other drugs.
Vitals and a urine specimen for hCG were obtained prior to the physical exam.
Weight

168 lb

Height

65"

Pulse

72

Blood pressure

120/82

Temperature

98.2°F

Urine hCG

Negative

Complete screening physical exam is normal, with normal sexual development and absence of hirsutism and acne.

Question
What diagnostic study result is most consistent with the suspected diagnosis?

A Decreased free thyroxine (free T4)
B Decreased luteinizing hormone (LH)
C Increased estradiol
D Increased follicle stimulating hormone (FSH)
E Increased testosterone
F Increased thyroid stimulating hormone (TSH)
D)

This patient would be expected to have increased follicle stimulating hormone (FSH) levels. Based on the history and physical, her diagnosis is perimenopause, with a classic history of vasomotor symptoms (hot flashes/flushes and night sweats). Perimenopause is defined as the time prior to menopause in which the woman's ovarian hormone output begins to decline, and often begins in the mid-40's. Menopause is defined at the point in time in which the patient has been amenorrheic for 12 months. Postmenopause occurs after that. The average age for menopause is just over 51 years of age. With her history, a negative pregnancy test, and normal physical exam at age 48, the diagnosis of perimenopause can actually be made without diagnostic studies. However, if tests are done, it is recommended to check the "upstream" hormones from the pituitary (follicle stimulating hormone and/or luteinizing hormone), rather than the ovarian hormones themselves (estradiol and progesterone). FSH elevation is the 1st measurable hormone evidence of menopausal ovarian failure. With the physiologic feedback mechanism, both FSH and LH rise in response to a low ovarian output of inhibin, which would normally suppress FSH in a younger woman.

A decreased free thyroxine (free T4) level would indicate hypothyroidism. Although thyroid function should be considered in women having menstrual changes and fatigue, this patient denies other symptoms of hypothyroidism (weight gain, dermatologic changes, cold intolerance, constipation, and depressed mood). Hypothyroidism is not associated with hot flashes and night sweats.

Decreased luteinizing hormone (LH) would be expected in situations in which there is primary pituitary or hypothalamic dysfunction or suppression, such as with the administration of hormonal contraceptives. Eating disorders and malnutrition may also cause low LH levels. This patient presentation does not indicate any of these disorders.

In perimenopause, and more dramatically in menopause, estradiol levels decrease. An increased estradiol level would not be expected in this patient.

Increased testosterone levels are most often seen in women due to polycystic ovarian syndrome (PCOS); they can also be seen in women with primary tumors of the ovaries, in which androgen production is increased. PCOS is characterized by menstrual changes consistent with anovulation (amenorrhea, oligomenorrhea, and history of infertility); hyperandrogenism (e.g., hirsutism and acne); and characteristic polycystic ovaries are seen on ultrasound. PCOS may be associated with obesity and insulin resistance or diabetes. The ovarian tumors are rare. This patient does not have a presentation consistent with either PCOS or ovarian tumor.

Increased thyroid stimulating hormone (TSH) would indicate hypothyroidism. TSH is released from the anterior pituitary in response to low thyroid hormones. In a situation with low thyroid hormone output, the TSH rises. As in the explanation for elevated free T4, this patient's symptoms are not fully explained by a diagnosis of hypothyroidism.
B)

Primary amenorrhea is the absence of menstruation by the age of 13 if the patient has no secondary sexual characteristics, or by the age of 15 if the patient has secondary sexual characteristics present. The absence of breasts indicates inadequate estrogen production. The initial workup includes a pregnancy test and serum luteinizing hormone, follicle-stimulating hormone, prolactin, and thyroid-stimulating hormone levels. If history or examination suggests a hyperandrogenic state, serum free and total testosterone and dehydroepiandrosterone sulfate concentrations are useful. FSH levels will show where the lesion is. If there are no functional ovaries, FSH will be high; and if there is no FSH, ovaries will not be stimulated. The next step should be obtaining the karyotype. The lack of X chromosome, which is necessary for developing ovarian follicles, will point to the gonadal dysgenesis, and low FSH will point to hypothalamic dysfunction (normal ovaries are not stimulated to produce estrogen). Autoimmune oophoritis with anti-ovarian antibodies should be considered when previous tests are normal. Patients with autoimmune oophoritis are at risk for the development of adrenal insufficiency and other autoimmune endocrinopathies (thyroid and parathyroid, diabetes mellitus, myasthenia gravis, pernicious anemia, etc.).

There is no need to obtain estrogen levels; having no breasts, your patient most probably has no estrogen. The main question is why she does not have estrogen. FSH and karyotyping will help in the diagnosis. Testosterone levels should be obtained in the patient who has breasts but has no uterus in order to decide where the estrogen originates from; if testosterone levels are that of a normal female and ovaries are present, then the patient might have Mullerian agenesis (she also will have normal pubic and axillary hair and normal karyotype). If testosterone levels are that of a normal male, the estrogen source is probably the testes, as in androgen insensitivity syndrome, when a psychologically and physically female patient (with karyotype 46, XY) presents with primary amenorrhea with the lack of pubic and axillary hair and absent uterus.

Total Testosterone would be a second-line test in the evaluation of primary amenorrhea, if the patient were to have been found to have an absent uterus on ultrasound.

Progesterone challenge test is usually performed in the case of secondary amenorrhea when other causes are excluded (pregnancy, hypothyroidism, prolactinoma, medications). A positive test is when a single dose of progesterone or 7 days of oral medroxyprogesterone causes withdrawal bleeding, as in anovulatory cycles. A negative test will demand further evaluation with an estrogen-progesterone challenge (21 days of estrogen followed by 7 days of progesterone). A negative test will prompt endometrial problems (scars, adhesions) or outflow obstruction from other cause. Withdrawal bleeding will reveal inadequate estrogen levels, and your next step will be to find out why. This can be done by obtaining FSH levels.
D)

This patient has placental abruption. Abruption is a leading cause of 2nd and 3rd trimester bleeding.

A meta-analysis has demonstrated that smoking increases the risk of abruption by 90%.
Maternal and paternal smoking increases the risk of abruption 2-fold. Risk increases 5-fold when both parents smoke.
Women with a history of abruption have a 15% increased risk during future pregnancies.
Placenta previa, cocaine use, preeclampsia, and preterm premature rupture of membranes (PPROM) are also associated with placental abruption.
Placental abruption is defined as complete or partial separation of the placenta prior to delivery. The incidence of abruption is 5 or 6 out of 1000 deliveries. Obvious vaginal bleeding occurs if the hemorrhage develops between the membranes and the uterus.

Concealed presentations occur when blood collects behind the placenta. Abruption is a leading cause of 2nd and 3rd trimester bleeding, and it causes significant maternal and neonatal morbidity and mortality. Classically placental abruption presents as painful third-trimester bleeding.

Treatment:Emergent cesarean is generally indicated when the patient is not in labor and hemodynamic compromise is present. If delivery is imminent and the abruption is mild, vaginal delivery may be attempted.

Cervical cancer is incorrect.Although cervical cancer can coexist with pregnancy, it is very unlikely in this case. The severity of the signs and symptoms in this case would be incongruent with achieving 9 months gestation.

Chorioamnionitis is incorrect.Clinical features include maternal fever and uterine tenderness in the presence of confirmed premature rupture of membrane (PROM). Profuse vaginal painful bleeding is not a finding.

Placenta previa is incorrect, as it classically presents with painless 3rd trimester bleeding.

Uterine rupture is incorrect. A uterine rupture typically occurs during active labor. As this patient denies any contractions, it is very unlikely.
C)

The patient most likely has abnormal uterine bleeding, formerly dysfunctional uterine bleeding (DUB).This is irregular uterine bleeding that occurs in the absence of pathology or medical illness. It is a diagnosis of exclusion. Laboratory studies for patients with abnormal uterine bleeding include human chorionic gonadotropin (HCG), complete blood count (CBC), Pap smear, endometrial sampling, thyroid functions and prolactin, liver functions, coagulation studies/factors, and testing for the presence of uterine fibroids or polyps and hormone assays when indicated. Most important, however, is to exclude endometrial hyperplasia or carcinoma because your patient has several risk factors: she is older than 35 years, she is obese, and she has prolonged periods of unopposed estrogen stimulation and probably chronic anovulation. Endometrial biopsy is the most important and most commonly used diagnostic test for abnormal uterine bleeding in such a patient.

In abnormal uterine bleeding, there is usually a hormonal imbalance (too much estrogen thickens endometrium, and progesterone causes excessive irregular bleeding). The effect of oral contraceptive pills on endometrium mimics that of an ovulatory cycle. However, before you start oral contraceptive pills, you should confirm the diagnosis of abnormal uterine bleeding, which means excluding the other reasons.

Follicle-stimulating hormone (FSH) testing may be ordered when a woman's menstrual cycle has stopped or become irregular to determine if the woman has entered menopause. That is not the case in your patient.

Mammography is indicated in this woman. The National Cancer Institute recommends that women age 40 or older should have screening mammograms every 1 to 2 years. However, it is not the most important test you should order at this point; instead, you should find a reason for bleeding because of all the consequences of losing blood and because of the risk of endometrial cancer.

Checking luteinizing hormone (LH) will be indicated in women having difficulties getting pregnant, having irregular or heavy menstrual periods, or having symptoms of pituitary, hypothalamic, or ovarian disorders. Again, endometrial biopsy done in the office is probably more important.
D)

Kallman's syndrome is a form of idiopathic hypgonadotrophic hypogonadism. Pituitary secretion of FSH and LH is reduced to varying degrees, resulting in the clinical manifestations. Patients present with hypogonadism, infertility, and varying degrees of pubertal development. Multiple genetic mutations have been associated with Kallman's syndrome, the most common gene associated being the PAX1 gene. Both males and females are affected, with males being more commonly affected.

The hallmark of the disorder is anosmia or severe hyposmia. As described in the vignette, patients have a reduced or absent sense of smell, which is present from birth. MRI of the brain may reveal multiple different malformations of the olfactory bulbs or sulci, including agenises or partial agenesis. The pituitary and hypothalamus are structurally normal. It was previously thought to be associated with color blindness, which has now been disproved.

Lab values typically show reduced levels of LH and FSH, with reduced sex hormones as a result. In men, testosterone levels are below normal; whereas in women, estrogen and progesterone are below normal.

Treatment is with gonadotropin replacement: estrogen-progesterone in women and testosterone in males. Fertility options include induction of ovulation with clomiphene, as well as artificial insemination by a variety of techniques.

End organ resistance to insulin is incorrect; this is seen in polycystic ovarian syndrome, not Kallmans' syndrome, along with hirsutism, acanthosis nigricans. The pathogenesis is multifactorial, with an increased LH/FSH ratio, increased androgens, hirsutism, and polycystic ovaries. Menarche is not usually delayed, and sonogram studies show a 'chain of lakes' picture of multiple ovarian cysts.

Adrenal sex steroids are incorrect, as they are not primarily responsible for the development of secondary sex characteristics.

Chromosomal anomalies is incorrect, as it results in delayed puberty most commonly seen with Turner's syndrome. The XO genotype results in primary amenorrhea, failure of secondary sex characteristics, and streak ovaries. Coarctation of the aorta and renal abnormalities may be seen. Olfactory problems are not seen.

Mullerian agenesis is incorrect, as it results in varying degrees of atresia of the outflow tract, with normal secondary sex characteristics. It results from defects in development in fusion and development of the Mullerian ducts with the fallopian tubes, uterus, and the upper third of the vagina. The pelvic sonogram shows a normal uterus and tubes, ruling it out.
B)

Galactorrhea would suggest elevated levels of serum prolactin and a prolactinoma in the pituitary as the underlying cause. A prolactinoma is associated with menstrual changes (often oligomenorrhea and amenorrhea), galactorrhea, headaches, and visual changes.

Acanthosis nigricans is a hyperpigmentation of the skin, especially in the neck folds, and is associated with elevated insulin levels, diabetes, and hyperandrogenism. These conditions are commonly associated with polycystic ovarian syndrome and amenorrhea or oligomenorrhea, but there is no direct association with headaches.

Hirsutism is a sign of hyperandrogenism and is often seen in women with polycystic ovarian syndrome, although it can occur due to other causes. The serum testosterone levels may or may not be elevated. Hyperandrogenism is linked with menstrual changes but not directly with headaches.

Imperforate hymen is a suspected cause in primary amenorrhea, in which the woman has never had a menstrual cycle. This women presents with secondary amenorrhea, so her hymen would not be expected to be intact. This condition also has no influence on headaches.

Thyroid nodules and overall thyroid dysfunction can play a role in menstrual regularity, but a nodule would not directly cause headaches.

A webbed neck, along with short stature and limited sexual development, are findings associated with Turner Syndrome. Primary amenorrhea is common with Turner Syndrome. Secondary amenorrhea and headaches would not suggest Turner syndrome findings.
B)

Chlamydia are bacteria. Characteristic of chlamydia infections is the development of inclusion bodies. Chlamydia trachomatis cause approximately 30-40% of all cases of nongonococcal urethritis in heterosexual males. Chlamydia trachomatis causes more nongonococcal urethritis in boys/men than Trichomonas vaginalis does.

Urethritis is an inflammation of the urethra. It is classified as either gonococcal urethritis (caused by Neisseria gonorrhoeae) or nongonococcal urethritis (caused by something other than Neisseria gonorrhoeae). Common causes of nongonococcal urethritis are Chlamydia trachomatis, Trichomonas vaginalis, and Ureaplasma urealyticum.

Chlamydophila psittaci does not cause nongonococcal urethritis. Chlamydophila psittaci causes a systemic illness called psittacosis, parrot fever, or ornithosis. Psittacosis is acquired from birds.

Trichomonas vaginalis is a protozoan. Trichomonas vaginalis can cause nongonococcal urethritisin males. It also causes trichomoniasis vaginitis, sometimes called trichomoniasis.

Ureaplasma urealyticum is considered a mycoplasma. Ureaplasma urealyticum is in the family Mycoplasmataceae and the genus Ureaplasma. Bacteria in the genus Ureaplasma require urea; therefore, Ureaplasma urealyticum is found primarily in genitourinary tract. Ureaplasma urealyticum is a common cause of nongonococcal urethritis.

Pneumocystis jiroveci (formerly called Pneumocystis carinii) is a fungus, not a protozoan. In an immunosuppressed host, Pneumocystis jiroveci can cause pneumonia. Pneumocystis jiroveci does not cause nongonococcal urethritis.