Fetal GU

Question 1

LUTO

Answer 1

Lower urinary tract obstruction
Progressive oligo
Physical deformations

Question 2

Most common cause of ambiguous genitalia

Answer 2

CAH leading to a virilized female

Question 3

Differential diagnosis of ambiguous genitalia

Answer 3

Inborn error of metabolism due to a single gene defect
Chromosomal disorder
Multiple malformation syndrome

Question 4

Workup of ambiguous genitalia

Answer 4

Maternal medications? (progesterone, androgens)
Examination for signs of androgen overproduction
Family hx - infertility, prior amb gen, neonatal deaths, consanguinity
Amnio - Karyotype, 7-dehydrocholesterol for Smith-Lemli-Opitz, save for 21-hydroxylase DNA mutation analysis
Specialists - pedi endo, genetics, neo, pedi uro, psych

Question 5

What is Smith-Lemli-Opitz syndrom

Answer 5

Disorder of cholesterol metabolism

Presents with growth restriction and ambiguous genitalia