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Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

Hong Kong medical journal = Xianggang yi xue za zhi, 2013-06, Vol.19 (3), p.268-271 [Peer Reviewed Journal]

2013. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the associated terms available at https://www.hkmj.org/about/website.html ;ISSN: 1024-2708 ;EISSN: 2226-8707 ;DOI: 10.12809/hkmj133717 ;PMID: 23732434

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Title:
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome
Author: Lee, K F ; Chan, Angel O K ; Fok, Juliana M C ; Mak, Maria W H ; Yu, K C ; Lee, K M ; Shek, C C
Subjects: Adrenal Hyperplasia, Congenital - diagnosis ; Adrenal Hyperplasia, Congenital - physiopathology ; Age Factors ; Aged ; Body Height ; China ; Female ; Humans ; Ovarian Cysts - etiology ; Ovarian Cysts - pathology ; Turner Syndrome - diagnosis ; Turner Syndrome - physiopathology ; Virilism - diagnosis ; Virilism - etiology
Is Part Of: Hong Kong medical journal = Xianggang yi xue za zhi, 2013-06, Vol.19 (3), p.268-271
Description: 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.
Publisher: China: Hong Kong Academy of Medicine
Language: English;Chinese
Identifier: ISSN: 1024-2708
EISSN: 2226-8707
DOI: 10.12809/hkmj133717
PMID: 23732434
Source: GFMER Free Medical Journals
MEDLINE
ProQuest Central
DOAJ Directory of Open Access Journals

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Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

2013. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the associated terms available at https://www.hkmj.org/about/website.html ;ISSN: 1024-2708 ;EISSN: 2226-8707 ;DOI: 10.12809/hkmj133717 ;PMID: 23732434

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