| What are the laboratory findings in Primary Hyperaldosteronism: |
1. Blood Pressure
2. Potassium level
3. Renin levels?
| 1. Hypertension|
3. Low renin
|To diagnose primary hyperaldosteronism, you give what medication in attempt to spress it? If this fails you get a CT to look for an adrenal adenoma. If the CT is negative, you perform what procedure?||Dexamethasone to check for glucocorticoid-suppressible aldosternosim. If CT is negative perform an adrenal vein catheterization - high concentrations of aldosterone will be found in one adrenal vein when an adenoma is present and both when bilateral hyperplasia is the culprit.|
|Treat glucocorticoid-suppressible hyperaldosteronism with daily ____. Treat adenomas with surgical removal. If there is bilateral adrenal hyperplasia you can try giving _____.||Prednisone. Spironoloactone to help BP and potassium. You can use amiloride if spironolactone cannot be tolerated.|
|What are Bartter Syndrome and Gitelman syndrome?||Types of secondary hyperaldosteronism where the plasma renin level is high but hypertension is not present. Barttter occurs inneonates and presents with severe dehydration after preterm polyhydraminos along with nephrocalcinosis. Gitelman has musculoskeltal symptoms and presents at an older age.|
|Liddle Syndrome presents with hypoaldosteronism, (high/low?) renin, HTN, & (high/low?) potassium.||Low renin & low potassium. Only hypoaldosterone disease. Autosomal Dominant.|
|In congenital anorchia, testosterone levels are ___ and FSH/LH levels are ____. What happens if you give hCG? It is inherited autosomal or X-linked recessive.|| Low testosterone|
hCG doesn't increase testosterone as it should.
|Noonan Syndrome is inhereited ____ on chromosomme ___. The children look like they have turner's syndrome. Which of the two (turner vs noonan) has mental retardation more commonly? What is the difference in MC cardiac defects between the two?||Autosomal dominant with variable expression on chromosome 12q. MR much more common in Noonan Syndrome. Noonan's has right sided cardiac disease (pulmonic valve stenosis). Turner's is mostly left sided (aortic).|
|What is the classic karyotype for Klinefelter Syndrome? What is the treatment?|| 47 XXY|
At around 11-12 years old give long acting testosterone and continue through adulthood.
|What is Kallmann syndrome? How is it inherited?||Lack of smell (hyposmia) and isolated hypogonadotropic hypogonadism (low FSH/LH). It is X-linked and due to a mutation of the KAL gene at Xp22.3. The olfactory axons and the GnRH expressing neurons don't migrate from their common origin inthe olfactory placode to the appropriate location in the brain.|
|What is laurence-moon-biedl/bardet-biedl syndrome?||Retinitis pigmentosa, obesity, and MR. Can also have polydactyly, genital hypopasia, & hypogonadism.|
|Prader Willi issdue to a deletion of the ____ region of chromosome ____ from the Mom/Dad?||q11-13 region on chromosome 15 from the father.|
|In a girl > 16 with primary ammenorrhea the ssingle most useful test is a ___.||9karyotype - MC cause is Turner's 45X)|
|MC cardiac finding in Turner's syndrome? Bonus if you know 2nd MC!|| Non-stenotic bicuspid aortic valve (50%)|
Second is aortic coarctation (20%)
|What are some other common comorbidities wiith Turner Syndrome besides bicuspid aortic valaves?||Pelvic or horeshoe kidney, pubic hair development but lack of breast development, AI thyroid disease, SHORT stature, Madelung deformity (wrist bulging), infertility, & sensorineural hearing deficiets.|
|Turner patients with mosaiacism involving the Y chromosome have a high risk of what?||Gonadoblastoma (15-25%!) So perform a prophylactic gonadectomy.|
|How is Turner syndrome treated and what is the usual age to startt?||Start hGH to increase height velocity. Start estrogen at age 12 - use conjugated estrogen or micronized estradiol. Look out for glucose intolerance.|
|What is Perrault syndrome?||XX gonadal dysgenesis. Very common in Finland - Normal female genetalia and growth but never hit puberty and keep grrowing. Have streaky ovaries Treat with estrogen therapy.|
|What is the likely genetic makeup of a child with ambiguous genetalia, with a testis//vas deferens on one side and a streak gonad on the other. Both sides usuallly have fallopian tubes and a rudimentary uterus midline?|| 45X/46XY|
Of note gonadoblastomas are common
|What is the MC carrdiac defect seen in Noonan Syndrome?||Pulmonary valvular stenosis or an ASD. They have normal sexual maturation that is delayed and are usually MR which are both other ways they differ from Turner Syndrome patients.|
|What metabolic disorder can cause ovarian damage?||Galactosemia|
|What are the common laboratory findings with PCOS?|| Elevated testosterone and an LH:FSH ratio of 3-5:1. |
Treat with BCPs (desogestrel) & spironolactone helps with hirsutism.
|What are the most common estrogen-secreting tumors?||Juvenile granulosa cell tumors - present with sexual prcocity.|
|What sequence encodes "maleness"" on the Y chromosome?|| The SRY gene. This is on the short arm oof the Y. If someone is missing the long arrm of the Y they are still male but are usually azoospermic and short. |
So if an X has one than an XX baby could be male, and if a Y one lacks it then an XY could be a girl phenotypically.
|In utero, what hormone secreted by the sertoli cells causes the Mullerian ducts to regress to create a male? At 8 weeks the Leydig cells produce ____ which causes the Wolffian duct to virilize into the epididymis, vas defrens, and seminal vesicles. The external genetialia needs ____ for male genetalia to exist.||MIS = Mullerian ducts regress|
Leydig cells secrete Testosterone which causes the Woffian duct to make internal male goodies.
Dihydrotestosterone makes the outer male goodies - it is formed from testosterone.
So no sertoli cells = get inside woman fallopian tubes etc.
No leydig Cells = no outside male parts.
|Femmale pseudohermaphrodites are XX - they have masculinized external genetalia only with clitoral hypertrophy and labioscrotal fusion. What is the cause?||Exogenous or endogenous fetal androgen exposure. MC source is congenital adrenal hyperplasia. (21-OH or 11-OH especially). Remeber that if a mom is taking Danazol for endometriosis the androgen effects can cause this form of ambiguous genetalia.|
|A 46XY male with pseudohermaphroditism due to a total deficiency of testosterone and also renal failure and Wilm's tumor is known as what syndrome?||Denys-Drash Syndrome - from loss of wilm's tumor suppressor gene.|
|What makes up WAGR Syndrome?||Wilm's tumor, Aniridia, GU malformations, and Retardation. They are 46, XY with ambiguous genetalia from loss of one copy of Wilm's tumor suppressor gene on chromosome 11p13.|
|What is camptomelic syndrome?||An AD condition with a 46,XY infant pseudohermaphrodite with both internal and external femal phenotype and short limbs. High mortality rate.|
|What is Swyer Syndrome AKA "XY Pure Gonadal Dysgenesis"?||An XY pseudohermaphrodite with normal chromosomes and SRY portion of Y chromosome but the Leydig and Sertoli cells do not form so they are compelte female phenotypes at birth. At puberty they do not get breasts or their periods.|
|A patient with 5alpha-reductase deficiency will present how clinically?||5apha-reductase is needed to make DHT. DHT is needed to develope male external genitalia. They have a small penis, bifid scrotum, urogenital sinus, and blind vaginal pouch. At puberty their testicles and penis grow. All other testosterone functions are intact. Usually girls when little but are boys after puberty. Autosomal Recessive.|
|The most common cause of pseudohermaphroditism is from androgen insensitivity. This is a broad spectrum of appearance. What is the phenotype of complete androgen insensitivity. HOW CAN YOU TELL ITIS THIS CAUSE VIA LAB?|| Complete = female external with a blind pouch vaginal. No uterus. Usually testes in the abdomen. |
Key is that testosterone levels are high or normal (unlike swyer, agonadism, leydig cell aplasia, etc.)
|What GI finding is associated with Smith-Lemli-Optiz Syndrome Type1 Vs Type 2?|| 1 = Pyloric stenosis|
2 = Hirschpsrung
S-L-O is due to loss of an enzyme needed to make cholesterol. Have characteristic facies (small head, ptsis, syndactly), and genital abnorms including ambiguous genitalia.
|True hermaphroditism occurs when both ovarian and testicular tissue is present. The MC genetic makeup is 46__.||46XX - 10% are 46XY, others are mosaic. Usually raised as female if there is an uterus on MRI or U/S.|
|What are the 3 criteria that you can use to diagnose diabetes? Now 4!|| 1 of the following must be true:|
1. Fasting glucose > 126 (8 hours)
2. random > 200
3. 2 hour plasma glucose > 200 with OGTT
4. Hgb A1C > 6.5%.
|Type 1 DM is related to certain HLAs on Chromosome __. The highest risk is with DR_ & DR_. Others include HLA-B8, HLA-BW15, and DQB1 (in caucasians - 100 fold increase).|| Chromosome 6|
DR3 and DR4
If a sibling of someone with DM has 2 of the same HLA-D haplotypes their risk of DM in 12-20% higher. With one it is 5-7% higher. Twins are 30-50%.
|DKA is seen with a glucose level > ____, Ketonemia, acidosis (pH <__), and bicarb < ___. Most are ___% dehydrated.|| Glucose > 300|
Bicarb < 15 mEq/L
10% dehydrated - replace 50% in the first 12-24 hours and the rest over the next 24-36 hours.
|In DKA, you can stop the insulin infusion once the acidosis is corrected, you then ctransition to insulin subQ at a dose of ___-_____ U/Kg every 6-8 hours if not restarting their home routine.||0.2-0.4 U/kg|
|Non-Ketotic hyperosmolar coma is recognized with severe hyperglycemia (>600), minimal ketosis, nonketotic acidosis, dehydration, and neurological changes. Serum osmolarity is usually > 350. What is the fluid and insulin management regimen for these patients?||Infuse 0.45% NaCl to reduce 50% of the volume deficit in 12 hours, then the rest over the next 24 hours. Add in glucose and decrease the NaCl by changing to D5 0.2 NaCl when the glucose level falls below 300. Watch glucose and K levels Q2H. Give an IV loading dose of 0.05 U/kg insulin followed by an infusion of 0.05 U/kg/hr after 1 hour of therapy.|
| How long do the following types of insulin last and what are examples?|
Long Acting (2)
| Rapid & short = 0.5-4 hours|
Rapid = lispro, aspart, glulisine
Short = regular, semi lente
Intermediate = 2-4 hours
NPH , Lente
Long = 4-6 hours
Rapid has an onset of 15 minutes, peak at 1-1.5 hours, and over by 3 hours so great for kids!
|Early in the diagnosis of DM or soon afterketoacidosis, the daily insulin dose is about __ U/kg. If you would like to use twice daily dosing of NPH (inter.)/regular insulin, how do you calculate the amount given?|| 0.5-1.0 Units/Kg|
Usually give 2/3 as NPH (intermediate lasting) and divide it twice a day. So 20 kg person gets 9 NPH and 5 regular in the am and 4 NPH with 2 regular in the evening.
|How do you determine the dosing of glargine with carb dosing during the day for type 1 diabetics that are early in the diagnosis?||1/2 unit per kg per day of insulin is given as glargine to be the basal insulin. Then give the rapid insulin with mealswith carb dosing of 1:15 grams of carbs (20 grams of carbs for the very young).|
|Use urine to check for ketones whenever the blood glucose in a type 1 diabetic is > ___. Ideal BG in the morning is ___ - _____. For kids the goal BG during the day is ___-____ and young kids it is ____ -___. The goal HgbA1c is < ____.|| 300 = check for ketones|
Ideal BG in am is 100-120
During the day BG is 80-120, if little then 50-200
HgbA1c < 7%
| What is the rule of 15 with hypoglycemia in diabetics?|
What are the doses for glucagon and D10?
| If hypoglycemic give 15 grams of carbs and recheck in15 minutes. If unconcious you must use glucagon and protect the airway since it can make them vomit|
Glucagon 1 mg IM. An IV dose of Glucose is 2 ml/kg of D10W.
|How do you treat the somogyi phenomemon in diabetes?||The pehenomenon is hypoglycemic episodes with night terrors or early morning sweating and hyperglycemia that is caused by counterregulatory hormones responding to hypoglycemia - so reduce the patient's insulin dose. (seen in kids needing 2U/kg insulin). Test by getting levels at 3,4 and 7 am.|
|How do you determine the insulin sensitivity of a child to help manage their insulin while sick?||The rule of 1,500 (1,800 in toddlers) - to find their insulin sensitivity you divide their total amount of insulin by 1,500. It tells you the amount of insulin needed to decrease their insulin a certain amount. Make sure they eat 15 grams of carbs an hour and check levels Q3H.|
|How do you manage fluids/insulin for surgical patients>|| Start D5 0.45 + 20 KCl and give 1 Unit of insulin for every 4 grams of glucose administered. |
For a brief surgery they can take 1/2 of their morning dose and then staart the D5 0.45 + 20 KCl without an insulin gtt. Then give 0.25 U/kg regular insulin Q6H based on glucose levels.
|What medication is startedif a diabetic has microalbuminuria?||ACE inhibitors - shows that it slows renal disease progression.|
|What is Type II DM Type A insulin resistance?||Have acanthosis nigricans and secere insulin resistance without obesity or lipoatrophy. Girls also have hyperandrogenism.|
|When do you screen for dibetes?||Age 10 or puberty, recheck Q3years if at risk|
| What is the MOA of the following diabetes medications:|
| Sulfonylureas: stimulate endogenous insulin production|
Biguanides: diminish hepatic glucose production (only FDA approved in kids)
Thiaz: enchance insulin action by decreasing hepatic glucose production AND facilitating disposal of flucose into fat and muscle.
|What is a critical sample in hypoglycemia?|| If premature < 25 or term infant or above < 40 glucose level collect a critical sample:|
glucose, insulin level, growth hormone, cortisol, lactate, ketones, and alanine. May also check the c-peptide level to look for exogenous administration.
|What is MODY?||DM that is characterized by onset betwen 9-25 years old with AD inheritance with a defect in insulin secretion mapped to genes. Need to have at least 3 generations effected with at least one relative diagnosed before age 25. MODY 1 & MODY3 are more severe than MODY 2.|
| What is Leprechaunism (Donahue Syndrome) made up of?|
How is the related syndrome Rabson-Mendehnhall syndrome different?
| Rare syndrome of IUGR, fasting hypoglycemia, and postprandial hyperglycemia with profound insulin resistance. Have significant acanthosis nigricans (armpits too). Most die by age 1. |
In rabson-mendenhall syndrome - have teeth and nail abnormalities and pineal hyperplasia - they live longer.