Sertoli-cell-only syndrome

Sertoli Cell-Only Syndrome (SCOS), also known as Germ Cell Aplasia or Del Castillo Syndrome, is a rare condition characterized by the absence of germ cells in the seminiferous tubules of the testes, leading to infertility in males. This condition is named after the Sertoli cells, which are the only cell type found in the affected seminiferous tubules, where normally germ cells would also be present to develop into sperm.

Causes and Pathophysiology

The exact cause of Sertoli Cell-Only Syndrome is not fully understood, but it is believed to be a result of genetic, environmental, or idiopathic factors. Genetic abnormalities such as microdeletions in the Y chromosome, specifically in the AZF region, have been associated with SCOS. Environmental factors, including exposure to toxins, radiation, and certain medications, may also play a role in the development of this condition.

In SCOS, the seminiferous tubules are devoid of germ cells, which are essential for spermatogenesis. The Sertoli cells, which support and nourish the germ cells, are present but cannot initiate sperm production in the absence of germ cells. This leads to infertility due to the lack of sperm in the ejaculate, a condition known as azoospermia.

Symptoms

The primary symptom of Sertoli Cell-Only Syndrome is infertility. Affected individuals may not exhibit any other symptoms, and the condition is often diagnosed during fertility evaluations. Physical examination and hormonal profiles are typically normal in SCOS patients, although testicular volume may be reduced in some cases.

Diagnosis

Diagnosis of Sertoli Cell-Only Syndrome is confirmed through a testicular biopsy, which reveals the absence of germ cells in the seminiferous tubules while Sertoli cells are present. Additional tests, including hormonal assays and genetic testing, may be conducted to rule out other causes of infertility and to identify any underlying genetic abnormalities.

Treatment

There is no cure for Sertoli Cell-Only Syndrome, and treatment focuses on addressing infertility. Assisted reproductive technologies (ART), such as testicular sperm extraction (TESE) combined with intracytoplasmic sperm injection (ICSI), may be considered in cases where sperm can be retrieved from other areas of the testes. For individuals where sperm retrieval is not possible, the use of donor sperm or adoption may be alternative options for achieving parenthood.

Prognosis

The prognosis for fertility in individuals with Sertoli Cell-Only Syndrome is generally poor due to the absence of sperm production. However, advances in assisted reproductive technologies have provided some men with SCOS the opportunity to father biological children, depending on the specifics of their condition.

Epidemiology

Sertoli Cell-Only Syndrome is a rare condition, though its exact prevalence is unknown. It is considered a significant cause of non-obstructive azoospermia, accounting for a portion of male infertility cases.

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