Details of Disease

General Information of Disease (ID: DISNNKVB)

• Disease Name: Familial male-limited precocious puberty
• Synonyms: precocious puberty, male limited; familial Testotoxicosis (subtype); sexual precocity, familial, gonadotropin-independent; Leydig cell adenoma, somatic, with male-limited precocious puberty; precocious puberty, male-limited; pubertas praecox; leydig cell adenoma, somatic, with precocious puberty; FMPP; testotoxicosis, familial; LHCGR peripheral precocious puberty; testotoxicosis; familial gonadotropin-independent male-limited sexual precocity; precocious puberty, male; peripheral precocious puberty caused by mutation in LHCGR; male-limited precocious puberty
• Definition: Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISLEOYC: Peripheral precocious puberty
  DISNNKVB: Familial male-limited precocious puberty
• Disease Identifiers:
  MONDO ID: MONDO_0008303
  MESH ID: C536961
  UMLS CUI: C0342549
  OMIM ID: 176410
  MedGen ID: 87444
  Orphanet ID: 3000
  SNOMED CT ID: 725295005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LHCGR	TT2O4W9	Limited	Genetic Variation	[1]
NR0B1	TTTK36V	Limited	Genetic Variation	[2]
CYP11B1	TTIQUX7	Strong	Biomarker	[3]
FSHR	TTZFDBT	Strong	Genetic Variation	[4]
LHCGR	TT2O4W9	Strong	Autosomal dominant	[5]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXL2	OTFRQUYL	Limited	Altered Expression	[6]
MPHOSPH6	OT6E2S48	Limited	Biomarker	[7]
NOBOX	OT0YFYPZ	Limited	Biomarker	[8]
INHA	OT7HWCO3	Strong	Biomarker	[9]
INHBB	OT2QLD11	Strong	Biomarker	[9]
LHCGR	OTSVIJ6I	Strong	Autosomal dominant	[5]

References

• [1] Constitutive luteinizing hormone receptor signaling causes sexual dysfunction and Leydig cell adenomas in male mice.Biol Reprod. 2017 May 1;96(5):1007-1018. doi: 10.1095/biolreprod.116.146605.
• [2] ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.Eur J Pediatr. 2009 Jan;168(1):65-9. doi: 10.1007/s00431-008-0710-5. Epub 2008 Apr 15.
• [3] Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. doi: 10.1210/jc.2006-0209. Epub 2006 May 2.
• [4] Mutation analysis of the follicle-stimulating hormone receptor gene in girls with gonadotropin-independent precocious puberty resulting from autonomous cystic ovaries.Fertil Steril. 2000 Feb;73(2):280-3. doi: 10.1016/s0015-0282(99)00520-8.
• [5] Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty. Endocr J. 2000 Oct;47(5):595-9. doi: 10.1507/endocrj.47.595.
• [6] Extinction of FOXL2 expression in aggressive ovarian granulosa cell tumors in children.Fertil Steril. 2007 Apr;87(4):896-901. doi: 10.1016/j.fertnstert.2006.11.016.
• [7] Gonadotropin independent precocious puberty.J Pediatr Endocrinol Metab. 1998 Jul-Aug;11(4):497-507. doi: 10.1515/jpem.1998.11.4.497.
• [8] Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.PLoS One. 2010 Jun 25;5(6):e11282. doi: 10.1371/journal.pone.0011282.
• [9] Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation.J Clin Endocrinol Metab. 2006 Aug;91(8):3041-7. doi: 10.1210/jc.2005-2564. Epub 2006 May 9.