Dean J C, Johnston A W, Klopper A I
Department of Medical Genetics, University Medical School, Aberdeen, UK.
Clin Endocrinol (Oxf). 1990 Mar;32(3):341-7. doi: 10.1111/j.1365-2265.1990.tb00875.x.
A family is reported in which isolated hypogonadotrophic hypogonadism is inherited as an autosomal dominant condition with variable expression. In previous familial cases, inheritance was autosomal recessive. Comparison is made with the endocrine and genetic findings in Kallmann's syndrome, which should be considered a separate disorder. There is difficulty in drawing a sharp distinction between hypogonadotrophic hypogonadism and constitutional delay in puberty in this family.
据报道，有一个家族中，孤立性促性腺激素缺乏性性腺功能减退症以常染色体显性遗传方式遗传，表现多样。在之前的家族病例中，遗传方式为常染色体隐性遗传。文中将其与卡尔曼综合征的内分泌和基因研究结果进行了比较，卡尔曼综合征应被视为一种单独的疾病。在这个家族中，区分促性腺激素缺乏性性腺功能减退症和体质性青春期延迟存在困难。
