Kibaek M, Jacobsen B B
Paediatrisk afdeling H., Odense Sygehus.
Ugeskr Laeger. 1991 Nov 4;153(45):3138-9.
Reifenstein's syndrome is a rare hereditary disorder with partial androgen insensitivity. Two brothers are reported in whom the diagnosis not was established until the ages of 10 and 12 years. Each of them had a small phallos, hypospadias, perineal urethra with a bifid scrotum and cryptorchidism. Several surgical procedures have been performed. At present, the older boy is 14 8/12 years of age and in puberty with significant gynecomastia. For clinical and genetic reasons, diagnosis early in childhood is of great significance.
赖芬斯坦综合征是一种罕见的遗传性疾病,伴有部分雄激素不敏感。本文报道了两兄弟,他们直到10岁和12岁时才确诊。他们每个人都有小阴茎、尿道下裂、会阴尿道伴阴囊分裂和隐睾症。已进行了多次外科手术。目前,年龄较大的男孩为14又8/12岁,处于青春期,伴有明显的男性乳房发育。出于临床和遗传原因,儿童早期诊断具有重要意义。