Leydig cell hypoplasia

Leydig cell hypoplasia is a rare form of intersex condition in which an individual's external genitalia do not match their genetic sex. This condition is caused by mutations in the LHCGR gene, which is responsible for the development of Leydig cells, the cells that produce testosterone in males.

Causes

Leydig cell hypoplasia is caused by mutations in the LHCGR gene. This gene provides instructions for making a protein that is found on the surface of cells in the testes, ovaries, and adrenal glands. The protein produced by the LHCGR gene is essential for the normal function of Leydig cells. Mutations in this gene can lead to a decrease in the number of functional Leydig cells, resulting in low levels of testosterone.

Symptoms

The symptoms of Leydig cell hypoplasia can vary greatly from person to person. In males, the condition can cause micropenis, cryptorchidism (undescended testes), and a lack of secondary sexual characteristics such as facial hair and a deep voice. In females, the condition can cause amenorrhea (absence of menstrual periods) and lack of secondary sexual characteristics such as breast development.

Diagnosis

Diagnosis of Leydig cell hypoplasia is typically made through a combination of physical examination, medical history, and laboratory tests. Genetic testing can confirm the presence of mutations in the LHCGR gene.

Treatment

Treatment for Leydig cell hypoplasia is typically focused on managing the symptoms of the condition. This can include hormone replacement therapy to increase testosterone levels in males, or estrogen replacement therapy in females. Surgery may also be an option to correct physical abnormalities.

See also

• Intersex
• Luteinizing hormone/choriogonadotropin receptor
• Testosterone
• Leydig cell

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