Sertoli cell-only syndrome

Sertoli cell-only syndrome
Other names	Germinal cell aplasia, Del Castillo syndrome, Germ cell aplasia.
Seminiferous tubules demonstrating maturation arrest.
Specialty	Endocrinology, andrology
Symptoms	Infertility, azoospermia, testicular atrophy, high FSH levels.[1]
Causes	Y-chromosome microdeletions, chemical or toxin exposure, radiation therapy, or severe testicular injuries.[2]
Diagnostic method	Testicular biopsy.[3]
Differential diagnosis	Leydig cell hyperplasia, azoospermia, klinefelter syndrome, end-stage testis failure, maturation arrest, and hypospermatogenesis.[4]
Treatment	Microscopic testicular sperm extraction or testicular sperm aspiration.[1]
Frequency	Rare.[4]

Sertoli cell-only syndrome (SCOS), also known as germ cell aplasia, is defined by azoospermia where the testicular seminiferous tubules are lined solely with sertoli cells.^[2] Sertoli cells contribute to the formation of the blood-testis barrier and aid in sperm generation. These cells respond to follicle-stimulating hormone, which is secreted by the hypothalamus and aids in spermatogenesis.^[4]

Men often learn they have Sertoli cell-only syndrome between the ages of 20 and 40 when they are checked for infertility and found to produce no sperm. Other signs and symptoms are uncommon, yet in some cases, an underlying cause of SCO syndrome, such as Klinefelter syndrome, may produce other symptoms.^[3]

Most cases of SCO syndrome are idiopathic, however, causes may include deletions of genetic material on Y-chromosome regions, particularly the azoospermia factor area. Other factors include chemical or toxin exposure, previous exposure to radiation therapy, and a history of severe trauma. A testicular biopsy confirms the diagnosis of SCO syndrome. Although there is no effective treatment at the moment, assisted reproductive technology may help some men with SCO syndrome reproduce.^[3]