男性假两性畸形：细胞培养中的诊断
Male pseudohermaphroditism: diagnosis in cell culture.
作者信息
Pinsky L, Kaufman M, Lambert B, Faucher G, Rosenfeld R
出版信息
Can Med Assoc J. 1977 Jun 4;116(11):1274-5, 1277.
Abstract
Testicular feminization is a classic form of complete male pseudohermaphroditism. The individuals have a normal XY karyotype but unambiguously female external genitalia. They have congenital complete insensitivity to androgen due to an X-linked mutation. In four patients (from tow families with several affected members) with the typical phenotype of testicular feminization, a severe deficit of specific androgen-binding activity was detected in cultured fibroblasts from labium majus skin. Measurement of this activity in genital skin fibroblasts improves the differential diagnosis in patients with complete or imcomplete male pseudohermaphroditism before puberty.
摘要
睾丸女性化是完全性男性假两性畸形的一种典型形式。患者具有正常的XY核型，但外生殖器明确为女性。由于X连锁突变，他们先天性对雄激素完全不敏感。在4例（来自两个有多名受累成员的家族）具有典型睾丸女性化表型的患者中，在大阴唇皮肤培养的成纤维细胞中检测到特异性雄激素结合活性严重缺乏。在青春期前对生殖器皮肤成纤维细胞中这种活性的测定有助于改善对完全性或不完全性男性假两性畸形患者的鉴别诊断。
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N Engl J Med. 1974 May 16;290(20):1097-103. doi: 10.1056/NEJM197405162902001.
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Congenital lipoid adrenal hyperplasia in an eight-year-old phenotypic female.一名8岁表型女性的先天性类脂质性肾上腺增生症。
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