Leydig cell hypoplasia

Leydig cell hypoplasia is a condition that affects male sexual development. It occurs when the Leydig cells in the testes are underdeveloped. These cells are important for producing male sex hormones (androgens) that drive the development of male physical features. As a result, people with this condition, who have a typical male genetic setup (46, XY), may show a variety of differences in the appearance of their external genitalia. Depending on the severity, the condition may present with signs such as a small penis (micropenis), an opening of the urethra on the underside of the penis (hypospadias), or a divided scrotum (bifid scrotum). In some cases, the external genitalia may not appear clearly male or female, and a few individuals might even have fully female external genitalia along with small, undescended testes. These variations are sometimes classified into different types. This condition is inherited in an autosomal recessive manner and is linked to changes in the LHCGR gene.

Common signs seen in people with Leydig cell hypoplasia include differences in the development of the reproductive organs. These can include a small penis (micropenis), an opening of the urethra in an unusual location (hypospadias), and a divided scrotum (bifid scrotum). Some individuals may have ambiguous genitalia, meaning the external appearance does not clearly indicate male or female development. In some cases, individuals have fully female external genitalia with small testes that do not descend normally.

Leydig cell hypoplasia is caused by mutations in the LHCGR gene, which affects the development and function of Leydig cells in the testes. This gene mutation leads to lower levels of male sex hormones, which contributes to the differences seen in sexual development. The condition is inherited in an autosomal recessive manner, meaning that a person needs to inherit the mutation from both parents to show symptoms.

There is no specific cure for Leydig cell hypoplasia. However, management of the condition focuses on addressing symptoms. A range of treatment options may be considered by a team of specialists, depending on the individual’s unique features and needs. These options are generally aimed at managing any hormone imbalances and may involve a coordinated, long-term approach.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.