Endocrine Abstracts

JOINT2197

Background: Sertoli cell-only syndrome (SCOS) is one of the most common causes of non-obstructive azoospermia in infertile men. The definitive test for diagnosing SCOS is the testis biopsy. In this work, we present 3 cases of SCOS in which the alpha-glucosidase (α-GLUC) level was remarkably elevated.

Clinical Cases: Case 1: A 35-year-old male presented with primary infertility and secondary erectile dysfunction. Laboratory investigations revealed hypergonadotropic hypogonadism and total azoospermia. Testicular atrophy was confirmed on ultrasound and testicular biopsy confirmed the diagnosis of SCOS. α-GLUC levels was elevated. Genetic testing identified a partial AZFc microduplication on the Y chromosome. The karyotype was normal. Case 2: A 43-year-old male presented with severe osteoporosis, pathological fractures, bilateral gynecomastia, and infertility without erectile dysfunction. Azoospermia was confirmed, along with hypergonadotropic hypogonadism and bilateral testicular atrophy. Genetic screening was negative for Y-chromosome microdeletions. The karyotype was normal. A testicular biopsy revealed SCOS. α-GLUC levels was also elevated. Case 3: A 49-year-old male presented with primary infertility and normal erectile function. Laboratory investigations showed hyperprolactinemia without an identifiable cause, hypergonadotropic hypogonadism, and azoospermia. Testicular ultrasound confirmed bilateral testicular atrophy. A testicular biopsy confirmed the diagnosis of SCOS. The karyotype was normal. Genetic testing revealed a partial AZFc microdeletion on the Y chromosome. MRI of the hypothalamic-pituitary axis was normal. α-GLUC levels was elevated.

Discussion: SCOS also known as germ cell aplasia is characterized by azoospermia in which the seminiferous tubules of testicular biopsy are lined only with Sertoli cells. The exact diagnosis of SCOS is based on diagnostic testicular biopsy and histopathological examination. Seminal α-GLUC levels reflect the epididymal function. The diagnosis of SCOS was retained in these 3 patients thanks to the testicular biopsy. These 3 patients had an elevated α-GLUC level suggesting a possible relationship in the pathophysiology of SCOS that should be investigated by large-scale studies. Would this marker be useful in the diagnosis of SCOS in the future?.