Findings: blind ending vagina, no uterus, no ovaries, breasts without pubic hair, elevated testosterone
Notes: No internal female structures as Mullerian inhibitor hormone is still present in genetic male. Testes are in inguinal canal.
Question: Which disease is associated with these findings?
Bartter Syndrome
Category: generalpediatrics-Endocrinology 2
Findings: increased renin secretion, hypokalemia, low to normal blood pressure, hypercalciuria, hyperaldosteronism
Notes: Caused by defect in ascending loop of henle that causing findings identical to those on loop diuretics with hypokalemic and hypochloremic metabolic alkalosis with excess K and Cl in urine.
Question: Which disease is associated with these findings?
Notes: Treat with hydrocortisone and fludrocortisone. May present with ambiguous genitalia in girls due to excess androgens, but not be easily seen in boys. Late onset type may present with early puberty. Caused by 21 hydroxylase deficiency.
Question: Which disease is associated with these findings?
Notes: Cushing syndrome is diagnosed with 24 hour urinary free cortisol, midnight salivary cortisol, and low dose dexamethasone suppression test. If dexamethasone cannot suppress cortisol release, then suspect Cushing syndrome from a potential adrenal tumor or ectopic tumor. Cushing disease is elevated cortisol levels due to central etiology like a pituitary tumor that secretes excess ACTH.
Question: Which disease is associated with these findings?
Dawn Phenomena
Category: generalpediatrics-Endocrinology 2
Findings: low early morning glucose, high later morning glucose, type 1 diabetes
Notes: Hyperglycemia in late morning caused by physiologic release of growth hormone. Treat by decreasing carbohydrates at night and giving AM dose of insulin by pump.
Question: Which disease is associated with these findings?
Familial Hypophosphatemic Rickets
Category: generalpediatrics-Endocrinology 2
Findings: defect in phosphate absorption in proximal tubule, lack of active vitamin D form, normal serum calcium, low serum phosphate, normal PTH, short stature, bone pain
Notes: Treat with oral phosphate supplementation and active form of Vitamin D.
Question: Which disease is associated with these findings?
Growth Hormone Deficiency
Category: generalpediatrics-Endocrinology 2
Findings: solitary maxillary central incisor
Notes: Also seen with other midfacial anomalies such as cleft palate or cleft lip. The growth hormone deficiency may be due to hypopituitarism.
Question: Which disease is associated with these findings?
Hypothalamic hamartoma
Category: generalpediatrics-Endocrinology 2
Findings: most common brain lesion causing central precocious puberty
Notes: Has ectopic neural tissue that has GnRH-secreting neurons. On MRI, seen as small and pedunculated mass connected to 3rd ventricle. CPP may also be caused by tuberculous brain involvement, hydrocephalus, tuberous sclerosis, head trauma, neoplasms, and postencephalitis.
Question: Which disease is associated with these findings?
Insulin
Category: generalpediatrics-Endocrinology 2
Findings: DKA in newly diagnosed patient with type 2 diabetes
Notes: Insulin in addition to diet and exercise for type 2 diabetic patients with ketoacidosis. Wean later if possible.
Question: What is first line medication for condition below?
Findings: large cafe au lait spots, xrays showing fibrous dysplasia, enlarged ovaries, vaginal bleeding
Neonatal Thyrotoxicosis
Category: generalpediatrics-Endocrinology 2
Findings: supraventricular tachycardia, tremors in neonate
Notes: Also known as neonatal Graves disease, this is caused by maternal thyroid stimulating hormones crossing the placenta. Seen in immediate newborn period, unlike inborn error of metabolism.
Question: Which disease is associated with these findings?
Findings: absent optic chiasm, optic nerve hypoplasia, agenesis of corpus callosum, hypothalamic insufficiency
Serum Osmolality
Category: generalpediatrics-Endocrinology 2
Findings: test to evaluate for etiology of known hyponatremia (serum sodium already known)
Notes: Can differentiate between hyponatremia and pseudohyponatremia
Smith-Lemli-Opitz Syndrome
Category: generalpediatrics-Endocrinology 2
Findings: severe intellectual disability, syndactyly of 2nd and 3rd toes, ptosis, microcephaly, growth retardation, ambiguous genitalia
Notes: Autosomal recessive defect in cholesterol synthesis, causing elevated 7-dehydrocholesterol.
Question: Which disease is associated with these findings?
Swyer Syndrome
Category: generalpediatrics-Endocrinology 2
Findings: genetic male, presence of vagina uterus fallopian tubes, no breast development or menstruation at puberty, streak gonads, absent penis or testes, low testosterone
Notes: Caused by gonadal dysgenesis with absence of Leydig cells and Sertoli cells. Lack of Leydig cells causes deficiency of testosterone, and so no Wolffian structures (penis, testes, scrotum) are developed. Lack of Sertoli cells allow Mullerian structures to develop. This is mostly due to a mutation in SRY gene.
Question: Which disease is associated with these findings?
Triple X Syndrome
Category: generalpediatrics-Endocrinology 2
Findings: speech and language delay noticed around age two, tall height in female, immature behavior, poor grades
Notes: Most common X chromosomal abnormality in females.
Turner Syndrome
Category: generalpediatrics-Endocrinology 2
Findings: newborn with loose skin folds at posterior neck, edema of hands and feet, low percentile for height and weight
Notes: Newborn presentation of Turner's syndrome
Urine Microalbumin
Category: generalpediatrics-Endocrinology 2
Findings: urine test to detect signs of kidney disease in patient with diabetes
Notes: Treat with ACE inhibitors or ARBs
Very Long Chain Fatty Acids
Category: generalpediatrics-Endocrinology 2
Findings: adrenal cortex deficiency, new clumsiness
Notes: Adrenoleukodystrophy, which is caused by inability of long chain fatty acids to be broken down in peroxisomes.
Question: Which substances accumulates due a disease causing these findings?