title: Syndrome of alopecia totalis and 17b-hydroxysteroid dehydrogenase deficiency.
abstract: 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.
authors.affiliation: Institute for Pediatric and Adolescent Endocrinology, Schneider Children's Medical Center of Israel, Beilinson Campus, Petah Tiqva.
authors.forename: A
authors.initials: A
authors.lastname: Kauschansky
authors.forename: M
authors.initials: M
authors.lastname: Shohat
authors.forename: M
authors.initials: M
authors.lastname: Frydman
authors.forename: A
authors.initials: A
authors.lastname: Rösler
authors.forename: E
authors.initials: E
authors.lastname: Greenbaum
authors.forename: L
authors.initials: L
authors.lastname: Sirota
mesh_terms: 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
chemical_list: D006063:Chorionic Gonadotropin; D000324:Adrenocorticotropic Hormone; D015067:17-Hydroxysteroid Dehydrogenases