Sertoli cell-only syndrome

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Sertoli cell-only syndrome
Germ cell aplasia with focal maturation arrest
Synonyms	Del Castillo syndrome, germ cell aplasia
Pronounce	N/A
Specialty	N/A
Symptoms	Infertility, azoospermia
Complications	Infertility
Onset	Typically diagnosed in adulthood
Duration	Chronic
Types	N/A
Causes	Genetic disorder, environmental factors
Risks	Cryptorchidism, Klinefelter syndrome
Diagnosis	Testicular biopsy, hormone testing
Differential diagnosis	Klinefelter syndrome, hypogonadotropic hypogonadism
Prevention	N/A
Treatment	Assisted reproductive technology, hormone therapy
Medication	N/A
Prognosis	Variable, depending on underlying cause
Frequency	Rare
Deaths	N/A

Sertoli cell-only syndrome (SCOS), also known as Del Castillo syndrome, is a condition characterized by the absence of germ cells in the seminiferous tubules of the testes, leading to male infertility. This condition is named after the Spanish physician Antonio del Castillo, who first described it in 1947.

Pathophysiology

In Sertoli cell-only syndrome, the seminiferous tubules contain only Sertoli cells, which are responsible for nurturing and supporting the development of spermatozoa. However, the absence of spermatogonia and other germ cells results in the inability to produce sperm, leading to azoospermia.

Causes

The exact cause of Sertoli cell-only syndrome is not well understood. It can be associated with various genetic and environmental factors, including:

• Genetic mutations
• Chromosomal abnormalities, such as Klinefelter syndrome
• Exposure to toxins or radiation
• Hormonal imbalances

Diagnosis

Diagnosis of Sertoli cell-only syndrome typically involves:

• Semen analysis showing azoospermia
• Testicular biopsy revealing the absence of germ cells and the presence of only Sertoli cells
• Hormonal assays to evaluate levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH)

Treatment

There is currently no cure for Sertoli cell-only syndrome. Treatment options focus on managing infertility and may include:

• Assisted reproductive technology (ART), such as intracytoplasmic sperm injection (ICSI) using donor sperm
• Hormone therapy to address any underlying hormonal imbalances

Prognosis

The prognosis for individuals with Sertoli cell-only syndrome varies depending on the underlying cause and the presence of any associated conditions. While natural conception is typically not possible, assisted reproductive technologies can offer alternative options for family planning.

See also

• Sertoli cell
• Azoospermia
• Klinefelter syndrome
• Intracytoplasmic sperm injection
• Testicular biopsy
• Follicle-stimulating hormone
• Luteinizing hormone

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