Identical twins discordant for Kallmann's syndrome.
Identical twins discordant for Kallmann's syndrome.
复制标题
卡尔曼综合征不一致的同卵双胞胎。
DOI：
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发表时间：
1990
影响因子：
4
通讯作者：
J. C. Davis
中科院分区：
文献类型：
--
作者：
L. Hipkin;I. Casson;J. C. Davis
A 20 year old male patient presented with lack of sexual development. On examination he was eunuchoidal and hypogonadal, and olfactory function testing showed he was anosmic. Biochemical investigations proved he was hypogonadotrophic. Kallmann's syndrome was therefore diagnosed. His appearance was very different from his alleged identical twin who had undergone a normal puberty and had normal plasma testosterone and gonadotrophin levels. However, the twin was hyposmic. Genetic fingerprinting confirmed the twins were identical. Why Kallman's syndrome was incompletely expressed in one of them is unexplained. The parents and a normally menstruating sister had normal olfactory function.
女性同胞中与色素性视网膜炎相关的低促性腺激素性性腺功能减退症：促性腺激素缺乏的证据。
DOI：
10.1210/jcem-53-6-1179
发表时间：
1981
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Chang,RJ;Davidson,BJ;Carlson,HE;Lu,JK;Judd,HL
通讯作者：
Judd,HL