Sertoli cell-only syndrome
Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia[1] ) is a disorder characterized by male sterility without sexual abnormality. It describes a condition of the testes in which only Sertoli cells line is present in seminiferous tubules.[2]
Presentation[edit | edit source]
Sertoli cell-only syndrome patients normally have normal secondary male features and have normal or small-sized testes.
Pathophysiology[edit | edit source]
Sertoli cell-only syndrome is likely multifactorial, and is characterized by severely reduced or absent spermatogenesis despite the presence of both Sertoli and Leydig cells. 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.[3]
Generally speaking, testosterone and LH levels are normal, but due to lack of inhibin, FSH levels are increased.
Diagnosis[edit | edit source]
Testicular biopsy would confirm the absence of spermatozoa. Seminal plasma protein TEX101 was proposed for differentiation of Sertoli cell-only syndrome from maturation arrest and hypospermatogenesis.[4][5] A clinical trial at Mount Sinai Hospital, Canada started testing this hypothesis in 2016.[6]
Treatment[edit | edit source]
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.[7] On retrieval of viable sperm this could be used in Intracytoplasmic sperm injection ICSI
In 1979, Levin described germinal cell aplasia with focal spermatogenesis where a variable percentage of seminiferous tubules contain germ cells.[8] It is important to discriminate between the two types in view of ICSI.
A retrospective analysis performed in 2015[9] 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[citation needed].
References[edit | edit source]
- ↑ Sertoli cell-only syndrome at eMedicine
- ↑ "Sertoli-Cell-Only Syndrome". 1 June 2016. Retrieved 24 August 2016..
- ↑ "Sertoli Cell-Only Syndrome". www.ebi.ac.uk. Retrieved 2019-12-08.
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- ↑ https://clinicaltrials.gov/ct2/show/NCT02851966
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- ↑ 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).
External links[edit | edit source]
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