Abs R, Raes D, Vercruysse H
Department of Endocrinology, University of Antwerp, Belgium.
J Intern Med. 1994 Sep;236(3):349-52. doi: 10.1111/j.1365-2796.1994.tb00807.x.
Diagnosis of idiopathic isolated hypogonadotropic hypogonadism was made in a 22-year-old female patient referred for primary amenorrhoea. It was considered a separate entity from Kallmann's syndrome, because it was not accompanied by anosmia or other specific pleiotropic features. On the other hand, the patient showed severe hypodontia and an intermittent Wolff-Parkinson-White syndrome. To our knowledge, this association has never been reported before. This unusual phenotype points to a nonrandom association. However, no information in the literature is available to consider a new single gene defect or a contiguous gene syndrome.
一名因原发性闭经前来就诊的22岁女性患者被诊断为特发性孤立性低促性腺激素性性腺功能减退。由于该疾病不伴有嗅觉丧失或其他特定的多效性特征,因此被认为是与卡尔曼综合征不同的独立疾病。另一方面,该患者表现出严重的牙齿发育不全和间歇性预激综合征。据我们所知,这种关联此前从未有过报道。这种不寻常的表型表明存在非随机关联。然而,文献中没有信息支持存在新的单基因缺陷或相邻基因综合征。