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LHCGR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LHCGR gene

The LHCGR gene provides instructions for a receptor protein that regulates sexual development and reproduction by responding to specific hormones.

Normal Function

The LHCGR gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. This receptor allows the body to respond to two specific hormones: luteinizing hormone and chorionic gonadotropin.

  • In males: Chorionic gonadotropin stimulates the development of Leydig cells in the testes, and luteinizing hormone triggers these cells to produce androgens (such as testosterone), which control male sexual development.
  • In females: Luteinizing hormone triggers ovulation, while chorionic gonadotropin helps maintain conditions necessary for pregnancy.

Health Conditions Related to Genetic Changes

Familial male-limited precocious puberty

Mutations in the LHCGR gene can cause the receptor to be constantly turned on, even without hormone binding. In males, this overactive receptor causes Leydig cells to produce excess testosterone, leading to familial male-limited precocious puberty. Affected boys may exhibit signs of puberty, such as genital growth and pubic hair, between the ages of 2 and 5. This condition has no apparent effect on females.

Leydig cell hypoplasia

Mutations that disrupt the function of the receptor impede the body's ability to react to luteinizing hormone and chorionic gonadotropin. In males, this results in poorly developed or absent Leydig cells and impaired testosterone production.

  • Severe cases: Individuals may have female external genitalia and undescended testes. They do not develop secondary sex characteristics at puberty.
  • Mild cases: Affected males may have a range of genital abnormalities, such as a small penis (micropenis), hypospadias, or a bifid scrotum.

Other disorders

Females with LHCGR mutations that disrupt receptor function do not have Leydig cell hypoplasia because they lack Leydig cells. However, they may experience delayed menstruation, irregular menstrual periods, and infertility due to a lack of ovulation.

Other Names for This Gene

  • FLJ41504
  • HHG
  • LCGR
  • LGR2
  • LH/CG-R
  • LH/CGR
  • LHR
  • LHRHR
  • LSH-R
  • LSHR_HUMAN
  • luteinizing hormone/choriogonadotropin receptor precursor
  • lutropin/choriogonadotropin receptor
  • ULG5

Frequently Asked Questions

Key features include rapid testicular growth (often >4 mL) and early voice deepening, with normal growth velocity. Unlike central precocious puberty, LH and FSH remain low or normal until puberty progresses. A positive response to a GnRH agonist test (no suppression of LH) supports an LHCGR mutation.
The mainstay is a GnRH agonist therapy (e.g., leuprolide) to suppress the hypothalamic‑pituitary‑gonadal axis, which can delay further pubertal progression for several years. In some cases, anti‑androgen therapy (e.g., spironolactone) may be added to reduce androgen effects. Long‑term outcomes show slowed bone age progression and improved final height, but treatment must be individualized.
Diagnosis starts with clinical evaluation of early pubertal signs (testicular enlargement, voice deepening, pubic hair) before age 8. Hormonal workup shows elevated testosterone with normal or low LH/FSH. Genetic testing involves sequencing the LHCGR gene to identify activating mutations; a targeted LHCGR panel or whole‑exome sequencing can be used. Family history and testing of parents can confirm autosomal dominant inheritance.
Leydig cell hypoplasia often leads to reduced sperm production and infertility. Testosterone replacement therapy can restore secondary sexual characteristics and improve quality of life, but it does not restore fertility. Assisted reproductive technologies (e.g., IVF with donor sperm) are the only option for biological children. Regular endocrine follow‑up is essential to adjust dosing and monitor bone density.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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