The presence of WHAT is required for formation of male external genitals in XY males?
The presence of WHAT results in regression of female internal duct structure in XY males?
Mullerian inhibiting factor
How can you differientate between a micropenis and ambigious genitalia?
Micropenis will have a normally formed penis w/ normal positioned meatus and testes in the scrotal sac.
Whereas with ambigious genitalia, you might not have either testes or the meatus in the proper spot.
If a female patient presents with clitoromegaly and palpable masses in the labial folds, what should you get?
A karotype, it is likely an XY patient with female phenotypical genitalia. Male pseudohermaphroditism, or testicular feminization
If a xy patient is diagnosed with pseudohermaphroditism, what else should you rule out?
5-alpha-reductase deficiency (can't reduce testerone to DHT) or 17-ketosteroid-reductase deficiency (impaired conversion of androstenedione to testosterone).
What do the Mullerian (paramesonephric) ducts normally form?
The uterus, cervix, upper vagina and fallopian tubes
When are persistant Mullerian Ducts normally found in XY males?
When they have a hernia repair or cryptochidism repair and patient is noted to have fallopian tubes or a rudimentary uterus with otherwise normal genitalia (including testes)
What happen to the genitalia in testicular feminization/androgen insensitivity?
Inability to develop male external genitalia resulting in a blind ending vagina and no uterus, but they are genetically male (XY), peripheral receptors are resistant to testerosterone; testes often found in the inguinal canal
If a patient presents with a micropenis and hypoglycemia, what disease process should you be suspicious of ?
Be suspicious of panhypopituitarism.
Need to also check to thyroid function.
What do you also need to be suspicious of if a phenotypical female presents of an x-linked disorder?
A genetic XY male who has androgen insensitivity.
A male patient who presents with in the newborn period with a shocky/septic picture, what disease process are you concerned about?
Congenital Adrenal Hyperplasia
If does the male genitalia look like in CAH?
Genitalia looks normal,
but there can be excessive scrotal pigmentation
What does the female genitalia look like in CAH?
The boards may describe it as 'ruggated labia' or 'clitoral hypertrophy'
If the boards is presenting a patient with growth delay, h/o hirsutism and amenorrhea (without a history of no medical care), what is the underlying condition?
CAH (late onset form)
What is the most common cause of CAH?
If the CAH is the 'salt-wasting' variety, what labwork will be abnormal?
Hyperkalemia, hyponatremia and elevated 17-hydroxyprogesterone
What medication treats congenital CAH?
Rate of growth prior to puberty?
During puberty, what is the peak growth velocity in girls?
If a boy presents with pubic hair, axillary hair and an enlarged penis, what it is this?
r/o an adrenal tumor
When does peak velocity occur in girls?
About 1.5 years before menarche; once they receive menarche they are within 1-2 inches of their adult height
If a patient presents with a sharp decline in the height percentile, weight normal for age but high for height, or delayed bone age as much as 2 years, what should you be suspicious of?
Growth Hormone Deficiency (GHD)
If a child presents with growth delay but is otherwise asymptomatic, what should you be wary of?
It could be crohn's diease.
Crohn's can present w/ growth retardation before some the GI issues.
Check and ESR to r/o it out first.
Is constitutional Delay more common in males or females?
If a patient shows a decrease in growth rate (usually in the teen years) with a delayed onset of buttery and bone age below chronological age, what is this?
Constitutional growth delay
What disorder should you consider in any short female?
Turner's syn (sometimes doesn't present until puberty) Growth hormone can help
If a kid presents with a delayed bone age and short height and might have cold intolerance or constipation, what should you be suspicious of?
Boy that is tall with learning difficulties and small testes, what disorder should you consider?
What is the average intelligence in Klinefelter's?
Kid with a cardiac defect, tall and lower body is longer in proportion to upper, what disorder should you consider?
If a kid presents with being tall, overweight, and advanced bone age, what disorder should you consider?
High caloric intake (exogenous obesity)
If an infant presents with poor feeding, jaundice, constipation, hypotonia, hoarse cry, macroglossia, umbilical hernia and/or enlarged anterior fontanelle, what disorder should you consider?
What is Grave's disease caused by?
An IgG antibody, known as "thyroid-stimulating immunoglobulin"
If a kid presents with emotional liability, weight loss, sleep issues, bulging eyes, and/or lid lag, what disorder should you consider?
What disease do you need to consider if a kid is presenting with Emotional liability and hyperactivity before deciding it's psych d/o?
How do you treat Grave's disease?
PTU, radioactive iodine.
If you find a thyroid nodule in a kid, what do you do?
Ultrasound to determine size and location?
Which is a better, a cold or hot nodule in the thyroid?
A cold nodule is a bad sign.
If you are presented with a patient with a thyroid mass, what is the most informative test you can order?
A fine needle biopsy
IF you evaluate a child with acanthosis nigricans and is obese, what is the most likely lab finding?
Low HDL cholesterol
If exercise and nutrition doesn't help a type 2 diabetic child, what medication can you use?
How can type 1 and type 2 DM be distinguished from each
Measuring autoantibioides against pancreatic beta cells, which are only present in type 1
What are the five criteria for metabolic syndrome?
1) high triglycerides
2) low HDL
4)hyperglycemia, (glu >100)
5) truncal obesity
What is the best way to check compliance long in a diabetic?
What is the first step in treating DKA?
Fluid replacement, a bolus of 20 cc/kg of NS in the 1st hour
If the sodium falls with rehydration of DKA, what should you consider?
SIADH (or poor management).
DKA is usually a sodium deficiency
Should you give K if the K value is normal in a present DKA patient?
Yes, they are overall depleted in K
When do you add glucose to the IVs in DKA?
When the sugars drop below 300
When do you stop the IV insulin in DKA?
When the patient has stabilized, pH > 7.3 and bicarb >15 and sugar <300
Why do you NOT want to rehydrate a DKA too quickly?
Don't want to cause cerebral edema!
How do you treat Hyperosmolar diabetic coma (patient w/ T2DM and high Osm and Glu)?
Same way as DKA
What are some causes that cause hypercalcemia?
Ingestion (Vit D & A intoxication, thiazides),
Skeletal d/o (dysplasias & immobilization), Hyperparathyroidism
How is the best way to treat hypercalcemia (especially if the kid is immobilized)?
High volume fluid,
If a patient presents with painful muscles spasms, generalized seizures, vomiting, or prolonged QT interval on EKG, what disorder should you consider?
What are the causes of Hypocalcemia?
Immune deficiency (di-george),
Nephrotic syndrome (lower albumin level),
Hypocalcemia and hypophosphatemia correlate with what disorder?
Vitamin D deficiency
Hypocalcemia and hyperphosphatemia correlates with what disorder?
A kid presenting bone pain, anorexia, decreased growth rate, widening of wrist and knees, bowed legs, enlarged costochondral junctions, what disorder should you consider?
If a kid presents with delayed eruption of teeth, what disorder should you consider?
Serum alkaline phosphatase levels are what in rickets?
Vitamin D deficient rickets is most likely to occur when?
Inadequate Vitamin D intake (breast-fed baby, especially if mom is vegetarian)
or Malabsorption, or lack of exposure to sunlight
What labs do you expect in Vitamin D rickets?
decreased serum calcium and phosphate,
decreased 25-OH Vit D
How do you treat nutritional rickets?
With vit D and calcium
If you have a kid that appears to have Vit D defiency causing rickets, and doesn't improve with Vit D/Ca, what else should you suspect?
Vitamin D dependent rickets type 1 (autosomal recessive),
If labs show lows serum calcium and phosphate, normal 25-OH Vit D, but a very low 1,25-OH Vit D, what disorder should you consider?
Vit D dependent rickets, type 1 (Autosomal recessive)
How do you treat vitamin D dependent rickets, type 1 (autosomal recessive)?
Vitamin D2 and 1,25 dihydroxy Vit D
What is a common form of rickets in industrialized countries?
X-linked (Dominant) familial hypophosphatemia
(excessive kidney losses of phosphate)
What is the treatment of X-linked familial hypophosphatemic rickets?
Phosphate supplement pulus 1,25 di-hydroxy-Vit D
What is the most specific risk factor for vitamin D deficient rickets in a premie?
Very low birthweight