Autosomal dominant hereditary disorder	Congenital anomaly of endocrine testis	Developmental hereditary disorder	Hereditary disorder of endocrine system	Increased hormone production	Precocious puberty	Reproductive system hereditary disorder
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Familial male-limited precocious puberty (disorder)
	Familial male-limited precocious puberty
	Male-limited precocious puberty Familial testotoxicosis Familial gonadotropin-independent male-limited sexual precocity
	A very rare 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. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinizing hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinizing hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder.
	familiaire vroegtijdige puberteit beperkt tot mannen
	familiale testotoxicose familiaire Leydig-celhyperplasie FMPP familiaire gonadotrofine-onafhankelijke pubertas praecox beperkt tot mannen

Id	725295005
Status	Primitive

Has interpretation	Increased
Interprets	Hormone production

Associated morphology	Maturation acceleration
Finding site	Testicular endocrine structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E30.1
Rule	TRUE
Advice	ALWAYS E30.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified