Endo Flashcards
Precocious puberty, cafe au lait lesions, asymmetric fibrous dysplasia of bones
McCune Albright syndrome
Initial work up when evaluating premature adrenarche in a young boy
testosterone, DHEAS, androstendione, bone age and 17-OHP - these rule out late onset CAH
LGA infant with accelerated growth velocity for first 5 years of life, associated with enlarged hands and feet with thickened subQ tissue. Generalized hypotonia
Sotos Syndrome
FDA indications for GH supplementation
Prader Wili, turners, SGA without catchup growth by 3 years of age, CKD prior to transplant, SHOX haploinsufficency, noonan syndrome, severe idiopathic short stature
Short stature, hypocalcemia, hyperPO4, high PTH, but with PTH resistance
pseudohypoparathyrodisim
Labs to draw prior to treatment of acute hypoglycemia
glucose, insulin, cortisol, growth hormone, ketones, lactate and pyruvate
Type 1 diabetes, autoimmune thyroid disease, Addison’s disease
Autoimmune polyglandular syndrome type 2
Chronic mucocutaneous candidasis, hypoparathyrodisim, addison’s disease, vitiligo, pernicious anemia, diabetes
Autoimmune polyglandular syndrome type 1
Central DI, diabetes mellitus, deafness and optic atrophy
Wolfram syndrome
Treatment for hypophosphatemic rickets
Phosphorus and calcitriol. Calcitriol helps increase intestinal absorption of phosphorous
Evaluation of premature thelarche
bone age, estradiol, LH/FSH
What might an infant with congential growth hormone deficiency present with
hypoglycemia, mircopenis an direct hyperbilirubinemia