Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia ) is a disorder characterized by male sterility without sexual abnormality. It describes a condition of the testes in which only

Sertoli cell Sertoli cells are a type of sustentacular "nurse" cell found in human testes which contribute to the process of spermatogenesis (the production of sperm) as a structural component of the seminiferous tubules. They are activated by follicle-stimul ...

s line is present in

seminiferous tubule Seminiferous tubules are located within the testes, and are the specific location of meiosis, and the subsequent creation of male gametes, namely spermatozoa. Structure The epithelium of the tubule consists of a type of sustentacular cells known ...

Presentation

Sertoli cell-only syndrome patients normally have normal secondary male features and have normal or small-sized testes.

Pathophysiology

Sertoli cell-only syndrome is likely multifactorial, and is characterized by severely reduced or absent spermatogenesis; because of the presence of Sertoli cells alone lining the seminiferous tubules. A substantial subset of men with this uncommon syndrome have microdeletions in the Yq11 region of the Y chromosome, an area known as the AZF (azoospermia factor) region. In particular, sertoli cell only syndrome (SCO) correlates with AZFa microdeletions. It is possible to recognize two types of SCO: SCO type 1 shows total absence of spermatogonia because of an altered migration of primordial germ cells from yolk sac to gonadal ridges; SCO type 2 is instead due to a subsequent damage and shows the presence of rare spermatogonia in a minority of tubules.

Diagnosis

Testicular

biopsy A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist. The process involves extraction of sample cells or tissues for examination to determine the presence or extent of a diseas ...

would confirm the absence of spermatozoa. Seminal plasma protein TEX101 was proposed for differentiation of Sertoli cell-only syndrome from maturation arrest and hypospermatogenesis. A clinical trial at Mount Sinai Hospital, Canada started testing this hypothesis in 2016.

Treatment

Sertoli cell-only syndrome is like other non-obstructive

azoospermia Azoospermia is the medical condition of a man whose semen contains no sperm. It is associated with male infertility, but many forms are amenable to medical treatment. In humans, azoospermia affects about 1% of the male population and may be seen ...

(NOA). Cases are managed by sperm retrieval through testicular sperm extraction ( TESE), micro-surgical testicular sperm extraction (mTESE), or testicular biopsy. On retrieval of viable sperm this could be used in Intracytoplasmic sperm injection

ICSI ICSI may refer to: * Intracytoplasmic sperm injection, a medical technique used in assisted reproduction * International Computer Science Institute, a non-profit research lab in Berkeley, California * Institute of Company Secretaries of India ...

In 1979, Levin described germinal cell aplasia with focal spermatogenesis where a variable percentage of seminiferous tubules contain germ cells. It is important to discriminate between the two types in view of ICSI. A retrospective analysis performed in 2015 detailed the outcomes of N=148 men with non-obstructive azoospermia and diagnosed Sertoli cell-only syndrome: * Men with SCOS: 148 * Testicular sperm was successfully retrieved: 35/148 * Successful ICSI: 20/148 * Clinical pregnancy: 4/148 This study considers the effect of FSH levels on clinical success, and it excludes abnormal karyotypes. All patients underwent MD-TESE in Iran. Ethnicity and genetic lineage may affect treatment of azoospermia.Tahereh Modarresi, Hani Hosseinifar, Ali Daliri Hampa, Mohammad Chehrazi, Jalil Hosseini, Faramarz Farrahi, … Mohammad Ali Sadighi Gilani. (2017). Predictive Factors of Successful Microdissection Testicular Sperm Extraction in Patients with Presumed Sertoli Cell-Only Syndrome. Int J Fertil Steril, 9(1).

References

External links

{{Male congenital malformations of genital organs, indeterminate sex and pseudohermaphroditism Endocrine gonad disorders Syndromes Genetic diseases and disorders Congenital disorders of male genital organs