Preferred Label : Leydig cell hypoplasia, type I;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Leydig cell hypoplasia with male pseudohermaphroditism; Hypergonadotropic hypogonadism, male, due to lhcgr defect; Leydig cell hypoplasia, complete; Leydig cell agenesis;
Included titles and symbols : Leydig cell hypoplasia, type II; Leydig cell hypoplasia, partial; Luteinizing hormone resistance, female;
Description : Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function
of the LHCGR gene in the male prevents normal sexual development. Two types of LCH
have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation
of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone
and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast
development, and absent development of secondary male sex characteristics. Type II,
a milder form caused by partial inactivation of the gene, displays a broader range
of phenotypic expression ranging from micropenis to severe hypospadias. Females with
inactivating mutations in the LHCGR gene display a mild phenotype characterized by
defective follicular development and ovulation, amenorrhea, and infertility (review
by Themmen and Huhtaniemi, 2000).;
Inheritance : Autosomal recessive;
Prefixed ID : #238320;
Origin ID : 238320;
UMLS CUI : C0266432;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
