Peds DSD

Question 1

Most common cause of salt-wasting CAH

Answer 1

21-hydroxylase deficiency

Question 2

Is malignancy risk high with complete androgen insensitivity syndrome?

Answer 2

Nope

Question 3

Is malignancy risk high with partial androgen insensitivity syndrome?

Answer 3

Yep

Question 4

Mixed gonadal dysgenesis phenotype

Answer 4

45,X/46,XY karyotype
Unilateral streak gonad
Descended dysgenetic testis
Clitorophallic structure with hypospadias
Check for Turner!

Question 5

Three main categories of 46,XX DSD

Answer 5

1. Disorders of gonadal development (ovotesticular DSD, 46XX testicular DSD)
2. Androgen excess (CAH)
3. Other (cloacal, vaginal atresia)

NORMAL ovaries and mullerian derivatives
UG sinus possible
Masculinized external genitalia possible

Question 6

5 gene mutations causing CAH

Answer 6

CYP21
CYP11B1
CYP17
HSD3B2
StAR

Question 7

Workup for suspected CAH

Answer 7

Electrolytes
Karyotype
17OHP (11-deoxycorticol if elevated)
T
LH
FSH

Question 8

Management for CAH

Answer 8

Fix salt wasting with mineralocorticoids
Add glucocorticoids later
Multdisciplinary surgical assessment
-Urethroplasty, vaginoplasty, clitoroplasty, labioplasty

Question 9

46,XY DSD categories

Answer 9

1. Abnormal testicular development (SR, WT1, SF1, SOX9), testicular agenesis, ovotesticular DSD
2. Androgen production defect (deficiency in StAR, HSDB3, 17AH, 17/20D, 17BHSD3, LH receptor mutations, 5AR deficiency
3. Androgen receptor efect (CAIS, PAIS)
4. Vanishing testis, hypohypo, persistent mullerian duct syndrome

Variable phenotype

Question 10

Evaluation of 46,XY DSD

Answer 10

Karyotype
T, DHT
HCG stim test perhaps

Question 11

Management of 46,XY DSD

Answer 11

Raise as male and virilize with androgens
Consider fixing testicles or hypospadias

Question 12

Which mutations have high risk of malignancy

Answer 12

WT1, frasier, 17BHSD (moderate risk)

Question 13

Come back to ovotesticular and KS

Answer 13

ok

Question 14

Initial H&P for suspected DSD

Answer 14

Gestational history
Exposures
FMHx
Prenatal testing review
Check for dyamorphic features
Describe labioscrotal folds and pigmentation
Describe clitorophallic length and location of meatus and chordee
Describe number of orifices
Palpate gonads

Question 15

DDx for no palpable gonads

Answer 15

Anything (46XX CAH is most common)

Question 16

DDx for unilateral palpable gonad and DSD

Answer 16

Cannot be complete gonadal dysgenesis or 46,XX DSD

Question 17

DDx for bilateral palpable gonads and DSD

Answer 17

46,XY DSD, ovotesticular DSDI

Question 18

Initial workup for DSD

Answer 18

BMP
Karyotype
T, LH, FSH
17-OHP
Abdominal US

Question 19

Typical steps for 46,XX CAH surgery

Answer 19

Urethroplasty and vaginoplasty to solve common sinus
Clitoroplasty to reduce phallus
Labioplasty

Question 20

Indications for gonadectomy in 46,XY DSD

Answer 20

Denys-Drash (WT1)
Frasier syndrome
StAR
17BHSD

Question 21

Differential if no gonads palp

Answer 21

Any DSD

Question 22

Differential if one gonad palp

Answer 22

cannot be 46XX (except ovotesticular)
Cannot be complete gonadal dysgenesis

Question 23

Differential if two gonads palp

Answer 23

46XY DSD