Fertile eunuch syndrome

Autosomal recessive - en

Fertile eunuch syndrome is a rare medical condition characterized by the presence of hypogonadism and infertility in males, despite the presence of functional spermatogenesis. This condition is also known as "fertile eunuchism" or "eunuchoidism with spermatogenesis."

Pathophysiology

Fertile eunuch syndrome is primarily caused by a deficiency in gonadotropins, which are hormones responsible for stimulating the gonads. The deficiency in these hormones leads to underdeveloped secondary sexual characteristics and low levels of testosterone. Despite these hormonal deficiencies, the seminiferous tubules in the testes remain functional, allowing for the production of spermatozoa.

Clinical Features

Individuals with fertile eunuch syndrome typically present with:

• Hypogonadism: Underdeveloped secondary sexual characteristics such as reduced facial and body hair, and a lack of deepening of the voice.
• Infertility: Despite the presence of functional spermatogenesis, individuals may experience difficulties in conceiving.
• Gynecomastia: Development of breast tissue in males.
• Eunuchoid body proportions: Long limbs and a short trunk, which are characteristic of delayed puberty.

Diagnosis

The diagnosis of fertile eunuch syndrome involves a combination of clinical evaluation and laboratory tests. Key diagnostic criteria include:

• Low levels of testosterone.
• Low or normal levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
• Presence of functional spermatogenesis, confirmed through semen analysis.

Treatment

Treatment for fertile eunuch syndrome typically involves hormone replacement therapy to address the deficiency in testosterone. This can help in the development of secondary sexual characteristics and improve overall quality of life. In cases of infertility, assisted reproductive technologies such as in vitro fertilization (IVF) may be considered.

Related Pages

• Hypogonadism
• Testosterone
• Spermatogenesis
• Gonadotropins
• Infertility
• Gynecomastia

Categories

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