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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.[12137][12138][12139]
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).[12137][12139] Males with severe LCH may not develop secondary sex characteristics during puberty, such as increased body hair, facial hair, and a deeper voice.[12138]
LCH is caused by mutations in the LHCGR gene and inheritance is autosomal recessive.[12137][12138] 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.[12139][14334] 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.[14332]
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