Female pseudohermaphroditism and associated anomalies.
Female pseudohermaphroditism and associated anomalies.
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女性假两性畸形和相关异常。
DOI：
10.1002/ajmg.1320060206
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发表时间：
1980
期刊：
影响因子：
--
通讯作者：
M. Lubinsky
中科院分区：
文献类型：
--
作者：
M. Lubinsky
观察到一名患者患有女性假两性畸形（FPH）和“梅肚综合征”（PBS）-腹部肌肉发育不全和尿路异常-在先前报告的三例病例中观察到的结果。对FPH合并其他异常的病例进行回顾，结果表明，一个极端是原发性畸形，可能是衍生性畸形，伴有梅状腹综合征。这些发现可以最好地理解为一个特定的胚胎发育领域，FPH是一个标志物，虽然不是一个不变的表达的干扰。视野包括肛门直肠、泌尿生殖、骶椎和腹壁结构。FPH是一种罕见的表现，回顾的病例表明，它可以作为一种发育异常出现，没有明显的激素触发。在多因素模型的基础上，这一领域的畸形是可以理解的，男性是一个诱发因素。隐眼综合征的尾部缺陷提供了一系列场异常的范例。
A patient was observed with female pseudohermaphroditism (FPH) and the "Prune Belly Syndrome" (PBS) - abdominal muscle hypoplasia and urinary tract abnormalities - findings seen in three previously reported cases. A review of cases of FPH with additional anomalies suggests a spectrum of primary, and possibly derived, malformations with Prune Belly Syndrome at one extreme. These findings can best be understood as disturbance of a specific embryological developmental field of which FPH is a marker, although not an invariable expression. The field includes anorectal, urogenital, sacral-spinal, and ventral wall structures. FPH is a rare manifestation, and the cases reviewed suggest that it can appear as a developmental anomaly without apparent hormonal trigger. Malformations of this field are understandable on the basis of a multifactorial model, with male sex as a predisposing factor. The caudal defects of the cryptophthalmos syndrome offer a paradigm for a spectrum of field anomalies.