Leydig Cell Hypoplasia (LCH)

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NIH Rare Diseases : ⁵² Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development . It causes incomplete development of Leydig cells, which are cells in the testicles (testes ) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with LCH has typical male chromosomes (46, XY ), but due to low androgen levels, may have a range of genital differences. In a genetic male with LCH, the external genitalia may not look clearly male or female (ambiguous genitalia ). Specific features of LCH may include a small penis (micropenis), a urethra opening (hole) on the underside of the penis rather than at the tip (hypospadias ), and a scrotum that is divided into two halves (bifid scrotum). A person with a severe form of LCH may have only female external genitalia , and small undescended testes (located in the pelvis, abdomen, or groin). Males with severe LCH may not develop secondary sex characteristics during puberty, such as increased body hair, facial hair, and a deeper voice. LCH is caused by mutations in the LHCGR gene and inheritance is autosomal recessive . There is no standard treatment for LCH. Treatment depends on the features and severity in each person and may include hormone therapy ; surgery for undescended testes, removal of testes, or to correct genital differences; and assisted reproductive technology for infertility. A team of specialists often work together to identify treatment options for a person with LCH. Of note: Genetic females (46, XX) can also inherit the mutations that cause LCH in males. Genetic females with these mutations have normal female external genitalia and normal female development during puberty, but may have amenorrhea (absent periods) and infertility.

MalaCards based summary : Leydig Cell Hypoplasia, also known as male hypergonadotropic hypogonadism due to lhcgr defect, is related to pseudohermaphroditism and hypogonadism. An important gene associated with Leydig Cell Hypoplasia is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Prolactin Signaling Pathway and cAMP signaling pathway. Affiliated tissues include testes, breast and uterus, and related phenotypes are delayed skeletal maturation and cryptorchidism

Genetics Home Reference : ²⁵ Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia). In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.

Wikipedia : ⁷⁴ Leydig cell hypoplasia (or aplasia) (LCH), also known as Leydig cell agenesis, is a rare autosomal... more...

Search Clinical Trials , NIH Clinical Center for Leydig Cell Hypoplasia

Search GEO for disease gene expression data for Leydig Cell Hypoplasia.