Leydig Cell Hypoplasia, Type I (LHR)

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Disease Ontology 12 DOID:0112260 OMIM® 57 238320 MeSH 44 D007006 ICD10 via Orphanet 33 Q56.1 UMLS via Orphanet 71 C0860158

Orphanet 58 ORPHA755 ORPHA96265 ORPHA96266 MedGen 41 C0266432 C2673495 C2673497 C2673498 more SNOMED-CT via HPO 68 258211005 370999003 UMLS 70 C0860158 C3668935

OMIM® : ⁵⁷ 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). (238320) (Updated 05-Apr-2021)

MalaCards based summary : Leydig Cell Hypoplasia, Type I, also known as luteinizing hormone resistance, female, is related to leydig cell hypoplasia type ii and leydig cell hypoplasia. An important gene associated with Leydig Cell Hypoplasia, Type I is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor). Affiliated tissues include breast, uterus and pituitary, and related phenotypes are increased circulating gonadotropin level and hypergonadotropic hypogonadism

Disease Ontology : ¹² A Leydig cell hypoplasia characterized by 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 that has material basis in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3.

UniProtKB/Swiss-Prot : ⁷² Luteinizing hormone resistance: An autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias.

Clinical features from OMIM®:

238320 (Updated 05-Apr-2021)

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