Simple virilizing with 21-hydroxylase deficiency: a report of 5 cases and literature review

VernacularTitle:单纯男性化型21-羟化酶缺乏症五例临床分析
Author: Guilan ZHOU ; Fang WANG ; Tuohua MAO ; Jing LI
Publication Type:Journal Article
Keywords: Congenital adrenal hyperplasia; 21-hydroxylase
From: Chinese Journal of General Practitioners 2010;09(11):797-799
CountryChina
Language:Chinese
Abstract: The clinical manifestations, laboratory tests and treatment of 5 cases of simple virilizing with 211-hydroxylase deficiency were analyzed. The average age was 17 at the first hospital visit. The manifestation included abnormal external genitalia at birth, no secondary sexual characteristics developed during adolescence and no menstrual cycles, and their near-adult height (NAH) was affected. The chromosome karyotype of the patients was 46 XX. The CT scans showed bilateral adrenal hyperplasia. The testosterone levels were (665 ± 334 ) μg/L, which were reduced to (81 ± 25 ) μg/L after dexamethasone suppression. The levels of adrenocorticotropic hormone were 123 (57 - 563) ng/L and ＜ 5 ng/L respectively before and after dexamethasone suppression test. Early diagnosis and early treatment is particularly important for improvement of the disease outcomes.