在一名患有混合型性腺发育不全的婴儿中意外发现阴道远端完整。
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis.
作者信息
Cabrera Susanne M, Alvarez Rudy, Kaefer Martin N, Eugster Erica A, Nebesio Todd D
机构信息
Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 702 Barnhill Drive, Room 5960, Indianapolis, IN 46202, USA.
出版信息
J Pediatr Endocrinol Metab. 2011;24(9-10):831-3. doi: 10.1515/jpem.2011.336.
Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives. Prenatal androgen exposure results in variable degrees of phallic enlargement and a urogenital sinus. Here, we report an infant with ambiguous genitalia due to MGD. Despite marked evidence of prenatal androgen exposure, there was a completely intact distal vagina.
混合性性腺发育不全（MGD）是性发育的性染色体疾病的一种形式，具有很大的表型变异性。MGD患者通常有不对称且模糊不清的生殖器，伴有苗勒管和中肾管衍生物。产前雄激素暴露会导致不同程度的阴茎增大和泌尿生殖窦。在此，我们报告一名因MGD导致生殖器模糊不清的婴儿。尽管有明显的产前雄激素暴露证据，但远端阴道完全完整。
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