Precocious puberty, male-limited

Disease ID:906
Name:Precocious puberty, male-limited
Associated with:1 target
Synonyms
Familial male-limited precocious puberty
Database Links
OMIM: 176410
Orphanet: ORPHA3000

Targets

LH receptor
Comments:  A number of activating single nucleotide polymorphisms have been identified in the human LHCGR gene, encoding constitutively active LH receptors mutated in their transmembrane domain. In a heterozygous male individual, the result is very early precocious puberty (familial male-limited precocious puberty or testotoxicosis). Mutations do not appear to have effects in girls or women. Adult males are normal.
References:  1

Ligands

No ligand related data available for Precocious puberty, male-limited

References

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1. Themmen APN, Huhtaniemi IT. (2000) Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev., 21: 551-583. [PMID:11041448]