familial male-limited precocious puberty

Term ID

DOID:0111545

Synonyms

• familial gonadotropin-independent male-limited sexual precocity
• FMPP
• male-limited precocious puberty
• testotoxicosis

Definition

An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (2)

References

• GARD:4475
• MESH:C536961
• MESH:D011629
• OMIM:176410
• ORDO:3000
• SNOMEDCT_US_2023_03_01:237818003
• UMLS_CUI:C0342549
• UMLS_CUI:C1504412

Ontology

Human Disease   ( DOID:0111545 )