DSD

Question 1

Hypospadias, cryptorchidism, and DIFFUSE MESANGIAL SCLEROSIS

Answer 1

Denys-Drash; WT1 (chromo 11)
dialysis dependent + mass = bilateral nephrectomy (wilms; >90%)
streak gonad–> watch for gonadoblastoma
UDT–> watch for seminoma

fsgs think frasier syndrome and they have streak gonads

Question 2

MRKH syndrome

Answer 2

unilateral renal agenesis
complete/partial absence of uterus
20% spinal anomalies (watch tethered cord)
15% cardiac issues / hearing impairement

Question 3

46 xy with palpable gonads and perineal hypospadias test for:

Answer 3

testosterone: DHT for 5 alpha reductase

Question 4

45x/46 xy presentation

Answer 4

normal male phenotype but 25% will have abnormal gonadal histology/function
can see delayed maturation / infertility

rare but can see ambig genit

Question 5

persistent cloaca

Answer 5

if hydrocolpos infected watch where catheter passes! if preferentially into bladder will need VAGINOSTOMY
may also see hydroureter

Question 6

SV, epididymis, and vas derive from..

Answer 6

wolffian duct

Question 7

if altered DHT production will see..

Answer 7

problems with prostate, UG sinus (urethra and bladder) and external genitalia

Question 8

utricle derive from..

Answer 8

mullerian system

Question 9

46 xy with bilateral non palp testis and normal phallus..

Answer 9

test for MIS and LH levels (if MIS low and FSH high then patient is anorchic and nothing further to be done)

Question 10

CAH…newborn with emesis

Answer 10

salt wasting! give IV NS and then perform FISH/karyotype + 17 hydroxyprogesterone and 11 deoxycortisol
once stabilized then can initiate glucocorticoid (metabolism / wound healing) and mineralocorticoid (salt / water balance)

Question 11

CAI

Answer 11

will have normal testosterone and not have a normal uterus

Question 12

clitoroplasty

Answer 12

preserve tunica and the dorsal NVB

get to erectile tissue ventrally only

Question 13

persistent mullerian syndrome

Answer 13

46 xy phenotype, bilateral UDT, but on orchiopexy will find fallopian tubes / uterus - testes will appear normal unlike with mgd
ideally: detach tubes from uterus and perform orchiopexy
they will be infertile most likely

Question 14

CAH - progression in males

Answer 14

at three years old precocious puberty will start
–will see enlargement of phallus BUT NOT TESTES; pubic hair, deep voice
LOW SERUM CORTISOL LEVEL B/C ALL SHUNTED TO SEX HORMONES

Question 15

small penis and lack of smell (inguinal testes)

Answer 15

Kallman's syndrome
hypothalamic hypogonadism (diminished FSH and LH)
tx with testosterone; when you want to get pregnant switch to hcg