Sertoli Cell Only Syndrome

– Summary:

Also called Del Castillo syndrome, in SCO syndrome, only Sertoli cells (cells that nourish immature sperm) line the seminiferous tubules (tubes inside the testes where sperm develop).
Hence, there are no sperm present in the seminiferous tubules and it is one of the causes of infertility with azoospermia.

– Discussion:

Sertoli cell only syndrome or Del Castillo syndrome or germ cell aplasia is a disorder characterized by male sterility without sexual abnormality.
Sertoli cell only syndrome is like other non-obstructive azoospermias (NOA), cases are treated by retrieval of sperm through testicular sperm extraction (TESE), microsurgical testicular sperm extraction (mTESE), or testicular biopsy.
When viable sperm are recovered, they can be used for intracytoplasmic sperm injection (ICSI).
Patients with Sertoli cell only syndrome usually have normal secondary male traits (male phenotype) and have normal or small testes.
It is characterized by severely reduced or absent spermatogenesis despite the presence of both Sertoli and Leydig cells.
It is produced by microdeletions on the Y chromosome, and there are 2 subtypes type 1, with a total absence of spermatogonia and type 2 with few spermatogonia in few tubules.
In general, testosterone and LH levels are normal, but due to the lack of inhibin, FSH levels are increased.
Sertoli cell only syndrome is like other non-obstructive azoospermia (NOA), cases are managed by sperm retrieval through testicular sperm extraction (TESE), micro-surgical testicular sperm extraction (mTESE), or testicular biopsy. [
In recovering viable sperm this could be used in ICSI intracytoplasmic sperm injection, as there may be focal spermatogenesis.
It usually occurs in men between the ages of 20 and 40. In this syndrome, only Sertoli cells line the seminiferous tubules of the testicle, and patients have very low or absent spermatogenesis.
These patients are usually normal on physical examination, as this condition presents with infertility without sexual abnormality. The diagnosis is usually made from the results of a testicular biopsy.

– Conclusions:

Patients can still reproduce with assisted reproductive technology. This activity describes the diagnosis and treatment of Sertoli cell only syndrome and highlights the role of the interprofessional team in the management of these patients.
Sertoli cells are found in the convoluted seminiferous tubules and are part of the blood-testis barrier in males. They also play an important role in spermatogenesis, which is the production of sperm.
Sertoli cells also secrete the anti-Müllerian hormone, AMH, which causes regression of the Mullerian ducts in the male fetus.
This hormone prevents the development of any internal female reproductive organs during the early stages of embryogenesis in a male fetus.
Sertoli cells also secrete inhibin-B, which provides the down-regulating effect of follicle-stimulating hormone secretion in the hypothalamus. Activin is another product secreted by Sertoli cells. It provides a positive feedback in the hypothalamus for spermatogenesis and leads to an increased level of FSH.
Patients have normal levels of luteinizing hormone (LH) and testosterone. The low level of inhibin-B leads to a higher than normal level of follicle stimulating hormone (FSH).
Causes:

Mostly idiopathic
Genetics, Klinefelter Syndrome may coexist
Exposure to toxins causing decreased spermatogenesis
Exposure to radiation in the testicular region
History of trauma leading to decreased sperm production
Viral infection
chemotherapy

Azoospermia refers to the absence of sperm, which is often observed in these patients. A very small percentage of patients may have a low level of detectable sperm.
Some studies have shown that recovery is better with higher levels of FSH in the blood.
The successful retrieval rate of sperm varies. Multiple factors, such as the presence of sperm, can influence the TESE and ICSI result. Some studies have even suggested that only 13% of patients with Sertoli cell syndrome managed to have a child using these procedures.
Couples are also advised to undergo genetic testing to confirm whether children might also be at risk forsuffer from the disease.
There may be:

Azoospermia
Leydig cell hyperplasia
Klinefelter syndrome
Testicular failure
Hypospermatogenesis

Sertoli cell syndrome is only best managed with an interprofessional team. Although the diagnosis is not difficult, the treatment is not satisfactory for couples who wish to conceive.
Only about 10% of couples ever conceive.

References:
-Stouffs K, Gheldof A, Tournaye H, Vandermaelen D, Bonduelle M, Lissens W, Seneca S. Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. Biomed Res Int. 2016; 2016: 6191307.
-Nistal M, Jimenez F, Paniagua R. Sertoli cell types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology. Histopathology. 1990 Feb; 16 (2): 173-80.

Keywords:
Germ cell aplasia, Sertoli cell only syndrome or Del Castillo syndrome, male sterility and Del Castillo syndrome, infertility with azoospermia, non-obstructive azoospermia, intracytoplasmic injection of sperm, Sertoli cells and antimullerian hormone, Sertoli cells and inhibin, Sertoli cells and activin, Sertoli cells and low level of inhibin B, Sertoli cells and high FSH level.

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