Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).
نویسندگان
چکیده
A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation was shown by identifying a new restriction site created by the mutation. This mutation appears to be a common feature of the disorder, as it has been reported previously in unrelated families. Therefore, the presence of this new restriction site can serve as a diagnostic tool in males at risk before the onset of symptoms, as well as identifying carrier females.
منابع مشابه
Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor.
A white man who had been diagnosed, 35 years previously at the age of 27 months, to have precocious puberty, was later determined to have familial male-limited precocious puberty (FMPP), on the basis of his family history, increased serum testosterone, prepubertal concentrations of follicle stimulating hormone and luteinizing hormone, and Leydig cell hyperplasia. Recently, this diagnosis was co...
متن کاملTestotoxicosis: gonadotrophin-independent male sexual precocity.
In this era of rapidly developing investigational tools and pharmacology, the pathophysiology of precocious puberty is becoming well defined. What was previously thought to be a form of gonadotrophin releasing hormone (GNRH)-dependent central precocious puberty is now classified as GNRH-independent familial testotoxicosis. We present two such cases and review the clinical features, pathophysiol...
متن کاملGenetic Models for the Study of Luteinizing Hormone Receptor Function
The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for fertility in men and women. LHCGR binds luteinizing hormone (LH) as well as the highly homologous chorionic gonadotropin. Signaling from LHCGR is required for steroidogenesis and gametogenesis in males and females and for sexual differentiation in the male. The importance of LHCGR in reproductive physiology is unde...
متن کاملSevere testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
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 Asp578-->Tyr. The severe testotoxicosis phenotype appears to be re...
متن کاملReply; Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene
Testotoxicosis is a rare disorder which presents as isosexual peripheral precocious puberty in males. Despite the pattern of autosomal dominant inheritance, sporadic cases also may occur. Due to activating mutation in luteinizing hormone (LH))/choriogonadotropin receptor (LHCGR) gene, early virilization and advancement in bone age are common with increased serum testosterone levels above adult ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 32 7 شماره
صفحات -
تاریخ انتشار 1995