KEGG DISEASE: Familial male-limited precocious puberty

KEGG

DISEASE: Familial male-limited precocious puberty

Entry

H02019                      Disease

Name

Familial male-limited precocious puberty;
Familial testotoxicosis;
Gonadotropin-independent familial sexual precocity

Supergrp

Precocious puberty [DS:H00937]

Description

Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the gonadal hormone system
    5A81  Testicular dysfunction or testosterone-related disorders
     H02019  Familial male-limited precocious puberty

Pathway

Calcium signaling pathway

Prolactin signaling pathway

Gene

LHCGR [HSA:3973] [KO:K04248]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, Blomberg L, Cutler GB Jr

Title

Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.

Journal

Proc Natl Acad Sci U S A 92:1906-10 (1995)
DOI:10.1073/pnas.92.6.1906

Reference

Authors

Liu G, Duranteau L, Carel JC, Monroe J, Doyle DA, Shenker A

Title

Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.

Journal

N Engl J Med 341:1731-6 (1999)
DOI:10.1056/NEJM199912023412304

LinkDB

» Japanese version

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