Syndrome of alopecia totalis and 17b-hydroxysteroid dehydrogenase deficiency.
A distinct and previously undescribed syndrome of alopecia totalis, ichthyosis, and male pseudohermaphroditism due to steroid 17b-hydroxysteroid dehydrogenase deficiency was observed in an Israeli-Arab newborn infant.
Kauschansky
A
A
Institute for Pediatric and Adolescent Endocrinology, Schneider Children's Medical Center of Israel, Beilinson Campus, Petah Tiqva.
Shohat
M
M
Frydman
M
M
Rösler
A
A
Greenbaum
E
E
Sirota
L
L
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000324:Adrenocorticotropic Hormone; D000505:Alopecia / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D006063:Chorionic Gonadotropin; D012734:Disorders of Sex Development / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D013577:Syndrome
D006063:Chorionic Gonadotropin; D000324:Adrenocorticotropic Hormone; D015067:17-Hydroxysteroid Dehydrogenases