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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Leydig cell hypoplasia due to LHB deficiency
Familial male-limited precocious puberty

LHB LHCGR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LHB
(0.52)
LHCGR



Citations in the biomedical literature:


Leydig cell hypoplasia due to LHB deficiency
LHB
Familial male-limited precocious puberty
LHCGR



Leydig cell hypoplasia due to LHB deficiency
Familial male-limited precocious puberty

Synonym(s):
- 46,XY DSD due to LHB deficiency
- 46,XY DSD due to luteinizing hormone subunit beta deficiency
- 46,XY disorder of sex development due to LHB deficiency
- 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
- Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency

Synonym(s):
- FMPP
- Familial gonadotropin-independent male-limited sexual precocity
- Male-limited precocious puberty
- Testotoxicosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare endocrine disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536961

Familial male-limited precocious puberty

Very frequent
- Advanced bone age
- Autosomal dominant inheritance
- Precocious puberty
- Sterility / hypofertility
- Tall stature / gigantism / growth acceleration

Frequent
- Acne / acnea
- Hair and scalp anomalies
- Macropenis / megapenis / large penis

Occasional
- Azoospermia / oligospermia / asthenospermia
- Hyperactivity / attention deficit
- Macroorchidism / macrotestes
- Psychic / behavioural troubles


Leydig cell hypoplasia due to LHB deficiency

(no data available)