CLINICAL ANALYSIS ON 16 CASES OF 21-HYDROXYLASE DEFICIENCY
- VernacularTitle:21-羟化酶缺乏症16例临床分析
- Author:
Jin DU
;
Yinzhang WANG
- Publication Type:Journal Article
- Keywords:
hydroxylase deficiency;
cinical studies;
diagnosis
- From:
Medical Journal of Chinese People's Liberation Army
2001;0(12):-
- CountryChina
- Language:Chinese
-
Abstract:
To analyze the clinical characteristics of 21 hydroxylase deficiency and to improve its diagnosis and treatment, medical records of 16 in patients with 21 hydroxylase deficiency were carefully and retrospectively reviewed. The results showed that of the 16 cases, 1 was male with increased penile size, but no testicular enlargement. 15 were females with masculinized external genitalia to varying degrees even chordee in some cases, pigmentation (66 7%), hirsutism (60%), and ovarian dysfunction(40%). Laboratory tests showed elevated levels of serum ACTH, 24 hour urinary 17 KS, 17 KGS, and the results of medium dose dexamethasone suppression test were all positive. Fifteen cases received glucocorticoid replacement therapy and 12 female cases received corrective surgery. It is suggested that 21 hydroxylase deficiency, at present, still remains to be an underdiagnosed and undertreated disorder, therefore, more attention should be paid to it for improving the accuracy of diagnosis and adequacy of treatment.
