Sertoli cell-only syndrome (Del Castillo syndrome): Past, present and future

Area of Science:

• Reproductive Medicine
• Andrology
• Male Infertility

Background:

• Del Castillo, Trabucco and De la Balze syndrome described in 1947 involved patients with small testicles and normal secondary sexual characteristics.
• Histological examination revealed only Sertoli cells, with no germ cells, leading to the term Sertoli cell-only syndrome (SCOS).
• SCOS is characterized by non-obstructive azoospermia and reduced testicular volume, representing a severe form of male infertility.

Purpose of the Study:

• To provide a comprehensive review of Sertoli cell-only syndrome (SCOS).
• To synthesize historical background, clinical presentation, and diagnostic features of SCOS.
• To explore genetic factors and emerging therapeutic options for SCOS.

Main Methods:

• Literature review synthesizing existing research on SCOS.
• Analysis of historical case descriptions and modern studies.
• Compilation of clinical, hormonal, and histological findings.

Main Results:

• SCOS is defined by the absence of germ cells and spermatogonia in testicular biopsies, with only Sertoli cells present.
• Patients typically present with non-obstructive azoospermia and small testicular volume.
• Hormonal treatments like hCG have shown limited efficacy.

Conclusions:

• Sertoli cell-only syndrome (SCOS) represents the most severe histological manifestation of male infertility.
• Understanding the genetic basis of SCOS is crucial for developing effective treatments.
• Further research into novel therapeutic strategies is warranted for SCOS patients.