Fetal GU Flashcards Preview

MFM Written Boards > Fetal GU > Flashcards

Flashcards in Fetal GU Deck (5)
Loading flashcards...
1

LUTO

Lower urinary tract obstruction
Progressive oligo
Physical deformations

2

Most common cause of ambiguous genitalia

CAH leading to a virilized female

3

Differential diagnosis of ambiguous genitalia

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

4

Workup of ambiguous genitalia

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

5

What is Smith-Lemli-Opitz syndrom

Disorder of cholesterol metabolism
Presents with growth restriction and ambiguous genitalia