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 disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Gonadal diseases
   H02019  Familial male-limited precocious puberty
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
hsa04020  Calcium signaling pathway
hsa04917  Prolactin signaling pathway
Network
  Element
N00886  Mutation-activated LHCGR to LHCGR-GNAS-PKA signaling pathway
Gene
LHCGR [HSA:3973] [KO:K04248]
Other DBs
ICD-11: 5A81.0
ICD-10: E29.0
MeSH: C536961
OMIM: 176410
Reference
PMID:7892197
  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
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