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Gonadotropin-independent familial sexual precocity

MedGen UID:
87444
•Concept ID:
C0342549
•
Disease or Syndrome
Synonyms: Familial male-limited precocious puberty; Familial Testotoxicosis (subtype); Male-Limited Precocious Puberty; Pubertas Praecox; Testotoxicosis; TESTOTOXICOSIS, FAMILIAL
SNOMED CT: Familial male-limited precocious puberty (725295005); Familial gonadotropin-independent male-limited sexual precocity (725295005); Familial testotoxicosis (725295005); Male-limited precocious puberty (725295005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): LHCGR (2p16.3)
 
Monarch Initiative: MONDO:0008303
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 MedlinePlus Genetics
Familial male-limited precocious puberty is a condition that causes early sexual maturity 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://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty

Clinical features

From HPO
Decreased testicular size
MedGen UID:
66027
•Concept ID:
C0241355
•
Finding
Reduced volume of the testicle (the male gonad).
See: Feature record | Search on this feature
Precocious puberty in males
MedGen UID:
347989
•Concept ID:
C1859979
•
Finding
The onset of puberty before the age of 9 years in boys.
See: Feature record | Search on this feature
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Term Hierarchy

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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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