title: Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
abstract: Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentation was recognised due to his exceptionally short stature and persistent sexual ambiguity. His condition was only brought to medical attention as he developed a huge abdominal mass, which later turned out to be a benign ovarian mucinous cyst. It is therefore important to look out for co-existing congenital adrenal hyperplasia in patients with Turner's syndrome and virilisation, after the presence of Y chromosome material has been excluded.
authors.affiliation: Department of Medicine and Geriatrics, Kwong Wah Hospital, Yaumatei, Kowloon, Hong Kong. leekf1@ha.org.hk
authors.forename: K F
authors.initials: KF
authors.lastname: Lee
authors.forename: Angel O K
authors.initials: AO
authors.lastname: Chan
authors.forename: Juliana M C
authors.initials: JM
authors.lastname: Fok
authors.forename: Maria W H
authors.initials: MW
authors.lastname: Mak
authors.forename: K C
authors.initials: KC
authors.lastname: Yu
authors.forename: K M
authors.initials: KM
authors.lastname: Lee
authors.forename: C C
authors.initials: CC
authors.lastname: Shek
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000503:physiopathology; D000367:Age Factors; D000368:Aged; D001827:Body Height; D002681:China; D005260:Female; D006801:Humans; D010048:Ovarian Cysts / Q000209:etiology / Q000473:pathology; D014424:Turner Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D014770:Virilism / Q000175:diagnosis* / Q000209:etiology
keywords: Adrenal hyperplasia, congenital; Steroids/urine; Turner syndrome; Virilism