Leydig cell agenesis
Leydig Cell Agenesis[edit | edit source]
Leydig cell agenesis is a rare congenital condition characterized by the absence or dysfunction of Leydig cells, which are crucial for the production of testosterone in males. This condition leads to a spectrum of disorders related to sexual development and function.
Pathophysiology[edit | edit source]
Leydig cells are located in the testes and are responsible for producing testosterone in response to luteinizing hormone (LH) stimulation. In Leydig cell agenesis, these cells are either absent or non-functional, leading to low levels of testosterone. This hormonal deficiency affects the development of male secondary sexual characteristics and can result in ambiguous genitalia or underdeveloped male genitalia.
Clinical Presentation[edit | edit source]
Patients with Leydig cell agenesis may present with:
- Ambiguous genitalia at birth
- Micropenis
- Cryptorchidism (undescended testes)
- Delayed puberty
- Infertility
The severity of symptoms can vary depending on the degree of Leydig cell dysfunction and the timing of testosterone deficiency during development.
Diagnosis[edit | edit source]
Diagnosis of Leydig cell agenesis involves a combination of clinical evaluation, hormonal assays, and genetic testing. Key diagnostic steps include:
- Measurement of serum testosterone levels, which are typically low.
- Elevated levels of LH and follicle-stimulating hormone (FSH) due to lack of negative feedback from testosterone.
- Genetic testing to identify mutations in genes involved in Leydig cell development and function, such as the LHCGR gene.
Genetic Basis[edit | edit source]
Leydig cell agenesis can be caused by mutations in the LHCGR gene, which encodes the luteinizing hormone/choriogonadotropin receptor. This receptor is essential for the normal function of Leydig cells. Mutations in this gene can lead to a lack of response to LH, resulting in impaired testosterone production.
Treatment[edit | edit source]
Management of Leydig cell agenesis focuses on hormone replacement therapy to address testosterone deficiency. Treatment options include:
- Testosterone replacement therapy to induce and maintain secondary sexual characteristics.
- Surgical correction of cryptorchidism and other genital anomalies if present.
- Psychological support and counseling for patients and families.
Prognosis[edit | edit source]
With appropriate treatment, individuals with Leydig cell agenesis can lead normal lives, although fertility may remain a challenge. Early diagnosis and intervention are crucial for optimal outcomes.
See Also[edit | edit source]
==
External Links[edit | edit source]
- [Hormone Health Network](https://www.hormone.org/)
- [Genetics Home Reference](https://ghr.nlm.nih.gov/)
NIH genetic and rare disease info[edit source]
Leydig cell agenesis is a rare disease.
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Contributors: Prab R. Tumpati, MD
