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Gonadotropin-independent familial sexual precocity

MedGen UID:
87444
Concept ID:
C0342549
Disease or Syndrome
Synonyms: Familial Testotoxicosis (subtype); Male-Limited Precocious Puberty; Pubertas Praecox; Testotoxicosis; TESTOTOXICOSIS, FAMILIAL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Sex-limited autosomal dominant
MedGen UID:
871279
Concept ID:
C4025767
Genetic Function
Source: HPO
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Gonadotrophin-independent familial sexual precocity (237818003); Gonadotropin-independent familial sexual precocity (237818003); Familial testotoxicosis (237818003)
 
Gene (location): LHCGR (2p16.3)
OMIM®: 176410
Orphanet: ORPHA3000

Definition

Familial male precocious puberty is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4 years (Shenker et al., 1993). [from OMIM]

Additional description

From GHR
Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.  https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty

Clinical features

Precocious puberty in males
MedGen UID:
347989
Concept ID:
C1859979
Finding
The onset of puberty before the age of 9 years in boys.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Gonadotropin-independent familial sexual precocity in Orphanet.

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