Del Castillo syndrome

Del Castillo syndrome (Sertoli cell syndrome) is a rare disorder.

Patients do not differ from healthy men in sexual and physical development. Karyotype 46,XY.

Causes del Castillo syndrome

The cause of del Castillo syndrome is still unclear. Some researchers believe that this syndrome is congenital, while others find no evidence of the role of genetic factors in its etiology. An unknown damaging factor selectively affects the germinal elements of the testicles, which leads to atrophy of the seminal epithelium. Sertoli cells are not damaged. A similar picture is observed in severe diseases of the nervous system (for example, multiple sclerosis ), spinal fractures, cranial injuries, and radiation injuries.

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Symptoms del Castillo syndrome

Symptoms of del Castillo syndrome - secondary sexual characteristics are normally developed. The reason for contacting a doctor is complaints of infertility.

Forms

There are two variants of the syndrome: idiopathic and developing after combined radio- and chemotherapeutic treatment of tumors. In the idiopathic syndrome, the testicles are hypoplastic due to a decrease in the size of the seminiferous tubules, the diameter of which ranges from 120 to 200 μm. Completely atrophied tubules are occasionally encountered, the tunica propria is thickened due to an increase in the number of collagen fibers. The bulk of the tubules are devoid of lumen, and the walls are covered with highly differentiated Sertoli cells.

Some of them are at various stages of degeneration. Leydig cells are extremely polymorphic: on average, 50% of patients have a normal number of them, while the remaining 50% have them increased to varying degrees; 40 to 80% of Leydig cells are unchanged; 10-25% are hypoplastic with a large number of cytoplasmic lipids; some of them have pronounced degenerative changes. Pathologically differentiated and immature Leydig cells are rare.

In the second variant of the syndrome, the diameter of the tubules is from 150 to 190 µm, they are surrounded by an undulating basement membrane, which wedges into the cytoplasm of the basal part of the Sertoli cells. Tunica propria is slightly thickened. Significant hyperplasia is characteristic, often hypertrophy of Leydig cells. Less often than in the first variant, hypoplastic Leydig cells are encountered.

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Diagnostics del Castillo syndrome

For the diagnosis of del Castillo syndrome, histological examination of the testicles is of decisive importance.

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Treatment del Castillo syndrome

Treatment of del Castillo syndrome - patients usually do not need hormonal therapy. Androgens are prescribed only if androgen deficiency is detected.

Forecast

The prognosis regarding fertility is unfavourable.

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