Endocrinology

Question 1

Most common cause of congenital hypothyroidism

Answer 1

Thyroid dysgenesis (maternal hashimoto cannot cause congenital hypothyroidism)

Question 2

18 yo male, bilateral gynacomastia, small testes, arm span 70 in, height 69 in, low testosterone, high FSH and LH, Barr bodies

Answer 2

Kleinfelter syndrome XXY (vs. Kallman syndrome = no barr bodies, increase arm span > 2.5 cm to height, and ansomia)

Question 3

10 month old girl with bilateral gynecomastia without galactorrhea, pubic hair, or thickening of vaginal mucosa

Answer 3

Primary thelarche, likely benign, reassurance and reassess in a few months (no testing for hormones needed).

Question 4

Congenital hypothyroidism (Clx)

Answer 4

Large protuberant abdomen with umbilical hernia, poor feeding, sluggish, macroglossia +/- respiratory difficulty, hypothermia, bradycardia, apnea, prolonged jaundice, cold mottled skin, edematous genitals/extremities, +newborn screen

Question 5

Indications for growth hormone therapy

Answer 5

Prader Willi, Noonan, Turner, CKD prior to transplant, SGA with poor catch up by 2 yo, idiopathic short stature (<2.25 SD), SHOX haploinsufficiency, adults with GH def, AIDS wasting syndrome

Question 6

Type 1 vs type 2 autoimmune polyglandular syndrome

Answer 6

Type 1 = hypoPARAthyroid (think 11 in PARAllel), Type 2 = hypoTHYROID with HLA-DR3 and DR4.