Endocrine disorders

Question 1

Defective androgen receptor labs

Answer 1

increased T and LH

Question 2

Testosterone secreting tumor labs

Answer 2

Increased T, decreased LH

Question 3

Primary hypogonadism labs

Answer 3

decreased T, increased LH

Question 4

Hypogonadotropic hypogonadism labs

Answer 4

Decreased T, decreased LH

Question 5

Kallman syndrome

Answer 5

anosmia - olfactory bulb defect
X linked KAL chain
Primary amenorrhea, delayed puberty

Decreased GnRH, Decreased LH and FSH

Question 6

Androgen insensitivity Syndrome

Answer 6

46,XY appears normal female - female external genitalia, rudimentary vagina

have testes in labia - lumps in labia majora

Defective androgen receptor

Antimullerian hormone still present - degenerates paranephritic ducts, no upper vagina

DHT develops external genitals - default to female = lower vagina

little or no pubic hair

High T, high estrogen, high LH

Question 7

5 alpha reductase deficiency

Answer 7

No T –> DHT

ambiguous genitalia until puberty –> increased T = increased growth of external genitalia

normal T and normal estrogen

normal/slight increase in LH

internal genitalia normal

Question 8

Female Pseudohermaphroditism

Answer 8

XX, have ovaries

virilized or ambiguous genitalia
Inappropriate androgen exposure during early gestation

Congenital adrenal hyperplasia - 21 b hydroxylase or 11b hydroxylase deficiency

Question 9

Male pseudohermaphroditism

Answer 9

XY, testicular tissue
female or ambiguous external genitalia

androgen sensitivity syndrome

Question 10

True hermaphroditism

Answer 10

XX and XY
Ovarian and testicular tissue
ambiguous genitalia

cross over of SRY gene to X

merging of 2 fertilized eggs