De Metsenaere Fleur, Mortier Geert, Dhont Marc
Department of Obstetrics and Gynecology, Ghent University Hospital, Ghent, Belgium.
Am J Obstet Gynecol. 2004 Nov;191(5):1728-9. doi: 10.1016/j.ajog.2004.06.040.
A case of hypogonadotropic hypogonadism associated with the Johnson-McMillin syndrome is presented. This is a rare, autosomal dominant disorder, characterized by variable degrees of alopecia and anosmia, conductive hearing loss, and increased dental caries. Until now hypogonadotropic hypogonadism has only been observed in affected men. Ovulation can be induced with gonadotropins and conception can be obtained, but because prenatal diagnosis is not as yet possible, oocyte donation should be offered as an alternative for procreation.
本文报告一例与约翰逊 - 麦克米林综合征相关的低促性腺激素性性腺功能减退病例。这是一种罕见的常染色体显性疾病，其特征为不同程度的脱发、嗅觉丧失、传导性听力损失和龋齿增加。到目前为止，低促性腺激素性性腺功能减退仅在受影响的男性中观察到。可用促性腺激素诱导排卵并实现受孕，但由于目前尚无法进行产前诊断，应提供卵母细胞捐赠作为生育的替代方法。
