Çakır Aydilek D, Turan Hande, Onay Hüseyin, Emir Haluk, Emre Senol, Comunoglu Nil, Ercan Oya, Evliyaoglu Olcay
Department of Pediatric Endocrinology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Sex Dev. 2017;11(5-6):289-292. doi: 10.1159/000485882. Epub 2018 Jan 13.
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the AMH gene or its type II receptor (AMHR2). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G>T). PMDS is a rare condition, but it has to be considered in differential diagnosis of cryptorchidism with normal male genitalia.
持续性苗勒管综合征（PMDS）的特征是在表型正常的男性体内存在苗勒管衍生物。约85%的病例是由抗苗勒管激素（AMH）基因或其II型受体（AMHR2）突变引起的。我们报告了2名外生殖器正常但血清AMH水平高的兄弟。对这2名同胞的AMHR2基因进行序列分析，发现外显子10存在一个新的纯合错义突变（p.V458L，c.1372G>T）。PMDS是一种罕见疾病，但在鉴别诊断具有正常男性生殖器的隐睾症时必须考虑到该病。
