Hong Kong Med J 2013;19:268–71 | Number 3, June 2013
DOI: 10.12809/hkmj133717
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome
KF Lee, Angel OK Chan, Juliana MC Fok, Maria WH Mak, KC Yu, KM Lee, CC Shek
Department of Medicine and Geriatrics, Kwong Wah Hospital, Yaumatei, Kowloon, Hong Kong
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.
Key words: Adrenal hyperplasia, congenital; Steroids/urine; Turner syndrome; Virilism
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