Severe testotoxicosis phenotype associated with Asp578→Tyr mutation of the lutrophin/choriogonadotrophin receptor gene

被引：48

作者：

Müller, J

Gondos, B

Kosugi, S

Mori, T

Shenker, A

机构：

[1] Northwestern Univ, Sch Med, Dept Pediat, Chicago, IL 60614 USA

[2] Childrens Mem Hosp, Chicago, IL 60614 USA

[3] Kyoto Univ, Sch Med, Dept Lab Med, Kyoto 60601, Japan

[4] Sansum Med Res Fdn, Santa Barbara, CA 93105 USA

[5] Univ Copenhagen, Rigshosp, Dept Growth & Reprod, DK-2100 Copenhagen, Denmark

来源：

JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 04期

关键词：

lutrophin/choriogonadotrophin receptor; testotoxicosis; precocious puberty; genotype-phenotype correlation;

D O I：

10.1136/jmg.35.4.340

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Testotoxicosis is a form of male precocious puberty caused by heterogeneous activating mutations in the gene for the lutrophin/choriogonadotrophin receptor (LHR). A patient with an unusually early and severe: presentation of testotoxicosis, including profound Leydig cell hyperplasia, was found to have a sporadic mutation encoding Asp(578)-->Tyr, The severe testotoxicosis phenotype appears to be related to the strongly activating nature of the Tyr substitution.

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收藏

页码：340 / 341

页数：2

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