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[多毛症:鉴别诊断]

[Hirsutism: differential diagnosis].

作者信息

Marcondes José Antonio M

机构信息

Serviço de Endocrinologia e Metabologia, HCFMUSP, São Paulo, SP.

出版信息

Arq Bras Endocrinol Metabol. 2006 Dec;50(6):1108-16. doi: 10.1590/s0004-27302006000600019.

Abstract

Hirsutism is one of the manifestations of the hyperandrogenic syndromes. A practical approach consists of dividing the hyperandrogenic syndromes into virilizing and non-virilizing, in accordance to the presence or absence of virilization symptoms. A case of a patient with hirsutism and a high basal and post-ACTH stimulation concentration of 17-OHP is presented. The absence of virilization and of clinical history discarded as etiology the virilizing neoplasias and hyperthecose of the ovary. Among the causes of non-virilizing syndromes, the presence of the menstrual disturbance and hyperandrogenemia discarded idiopathic hirsutism. In accordance to the Consensus of Rotterdam, the diagnosis of polycystic ovary syndrome was considered. For to exclude the non classic form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, the patient was submitted to a short ACTH-(1-24) stimulation test. The 17-OHP concentrations after stimuli were 14 ng/dL, being that, in the dependence of the limit of considered cut-off, it would be compatible with this illness. Although the promoter region had not been studied, we can consider that this diagnosis was excluded through the sequencing of CYP21A2 gene, since mutation on the promoter region is a rare event.

摘要

多毛症是高雄激素血症综合征的表现之一。一种实用的方法是根据是否存在男性化症状,将高雄激素血症综合征分为男性化型和非男性化型。本文介绍了一例多毛症患者,其基础及促肾上腺皮质激素(ACTH)刺激后17-羟孕酮(17-OHP)浓度均升高。该患者无男性化表现且无相关病史,可排除男性化肿瘤及卵巢卵泡膜细胞增生症作为病因。在非男性化综合征的病因中,月经紊乱和高雄激素血症的存在可排除特发性多毛症。根据鹿特丹共识,考虑多囊卵巢综合征的诊断。为排除因21-羟化酶缺乏导致的非经典型先天性肾上腺皮质增生症,对患者进行了短程ACTH-(1-24)刺激试验。刺激后17-OHP浓度为14 ng/dL,根据所考虑的临界值范围,这与该病相符。尽管未对启动子区域进行研究,但由于启动子区域突变罕见,我们可以认为通过CYP21A2基因测序排除了该诊断。

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