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伴有5-α还原酶缺乏的男性假两性畸形:两例新的家族性病例报告。早期诊断的重要性。

Male pseudohermaphroditism with 5-alpha-reductase deficiency: report of two new familial cases. The importance of early diagnosis.

作者信息

Aguilar-Diosdado M, Gavilán-Villarejo I, Escobar-Jiménez L, Beltrán J, Girón J A

机构信息

Endocrinology Unit, Hospital "Puerta del Mar", Cádiz, Spain.

出版信息

J Pediatr Endocrinol Metab. 1995 Jan-Mar;8(1):67-71. doi: 10.1515/jpem.1995.8.1.67.

Abstract

We report two new familial cases of male pseudohermaphroditism due to 5-alpha-reductase deficiency, from the south of Spain. They were born with ambiguous genitalia and were reared as females. At the time of puberty, both brothers virilized partially and underwent a change of gender role from female to male with a stormy psychic readjustment period. We stress the value of the prolonged chorionic gonadotropin test for an early diagnosis.

摘要

我们报告了来自西班牙南部的两例因5-α还原酶缺乏导致的男性假两性畸形新的家族病例。他们出生时生殖器模糊,被当作女孩抚养。青春期时,两兄弟均出现部分男性化,并经历了从女性到男性的性别角色转变,伴有一段激烈的心理调整期。我们强调延长绒毛膜促性腺激素试验对早期诊断的价值。

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