What is Sertoli syndrome? – Causes and possible treatment

By (gynecologist), (embryologist) and (psychologist).
Last Update: 03/09/2022

Sertoli syndrome, also known as Sertoli syndrome alone, or germ cell aplasia, describes a disorder in which no germ cells are found in the seminiferous tubules and only Sertoli cells are present.

Men diagnosed with this syndrome do not produce spermatozoa, so they will present azoospermia, that is, the absence of spermatozoa in the ejaculate.

Therefore, patients with Sertoli syndrome have obvious difficulties in becoming parents naturally. This is why they need assisted reproduction techniques, on many occasions, resorting to a sperm donor.

What are Sertoli cells?

Sertoli cells are cells present in the testicular seminiferous tubules that line them and have a supportive function. However, Sertoli cells play an important role in the nutrition of germ cells and for spermatogenesis to occur properly. Spermatogenesis is the name given to the production of spermatozoa in the seminiferous tubules.

Therefore, under normal conditions, Sertoli cells coexist with germ cells in the seminiferous tubules.

Sertoli's syndrome

Patients affected by Sertoli syndrome only have Sertoli cells in the seminiferous tubules, presenting an absence of germ cells.

Usually, the physical examination of these males is normal, with normal secondary sexual characteristics (although the testicles may be smaller). Thus, germ cell aplasia is typically diagnosed when these patients present for consultation for infertility problems.

Once a result of azoospermia has been obtained in the seminogram, the final diagnosis of Sertoli syndrome is made by testicular biopsy and analysis of the tissue obtained.

Among the clinical findings, many of the males affected with Sertoli syndrome may have a normal karyotype. Luteinizing hormone (LH) and testosterone levels are generally normal in these patients, while follicle-stimulating hormone (FSH) would be elevated.

Causes

One of the proposed causes of Sertoli syndrome is that the primordial germ cells did not successfully migrate to the primitive testis. In addition, genetic alterations, such as microdeletions of the Y chromosome, have been described as a possible cause. Sertoli syndrome has also been associated with Klinefelter syndrome.

However, the exact reasons for germ cell aplasia are often unknown.

On the other hand, there are other possible acquired causes associated with Sertoli syndrome. These include oncological treatments and viral infections.

Treatment

Unfortunately, there is no specific treatment for germ cell aplasia. For this reason, those men diagnosed with Sertoli syndrome who wish to become fathers must resort to assisted reproduction.

These patients will not have sperm production and, therefore, it will not be possible to obtain spermatozoa in the ejaculate or in the testicles by biopsy. Because of this, patients with Sertoli syndrome cannot be biological parents.

Despite this, these patients can resort to sperm donation or adoption to have offspring.

However, in certain cases, some seminiferous tubules may still maintain a small focus of spermatogenesis. This would make it possible to recover some sperm by testicular biopsy for later use in intracytoplasmic sperm injection (ICSI), which would allow them to become biological fathers.

In this case, it is essential to perform the necessary genetic tests and to offer genetic counseling to future parents, due to the risk that the baby may inherit some alteration.

Assisted procreation, as any other medical treatment, requires that you rely on the professionalism of the doctors and staff of the clinic you choose. Obviously, each clinic is different. Get now your Fertility Report, which will select several clinics for you out of the pool of clinics that meet our strict quality criteria. Moreover, it will offer you a comparison between the fees and conditions each clinic offers in order for you to make a well informed choice.

FAQs from users

What may be the cause of Sertoli syndrome?

By Paloma de la Fuente Vaquero M.D., Ph.D., M.Sc. (gynecologist).

Sertoli syndrome (germinal aplasia) consists of a testicular alteration characterized by not finding spermatogonia or spermatozoa (germ cells) at the level of the seminiferous tubule, only Sertoli cells (those whose mission is to provide structural and metabolic support to germ cells or future sperm cells). It is a cause of permanent and irreversible sterility. Since there are no spermatozoa in the testicle, it is not possible to resort to any assisted reproduction technique with the patient's own sperm, thus requiring donor sperm.

Among the fundamental causes of germinal aplasia (Sertoli syndrome), there are congenital or acquired causes: poor testicular descent, radiation, cytostatic drugs.

Can I be a father if I have Sertoli syndrome?

By Silvia Azaña Gutiérrez B.Sc., M.Sc. (embryologist).

Sertoli syndrome patients have to resort to assisted reproductive techniques in order to become fathers and, in most cases, donor sperm must be used (so they will not be biological fathers).

However, in some men with Sertoli syndrome it is possible to obtain spermatozoa by testicular biopsy if a focus of spermatogenesis is preserved. These sperm can then be used to fertilize the eggs by intracytoplasmic sperm injection (ICSI) and thus attempt to achieve gestation.

If you want to learn more about spermatogenesis, you can visit the following link: How spermatozoa are formed - Phases of spermatogenesis.

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References

Anniballo R, Ubaldi F, Cobellis L, Sorrentino M, Rienzi L, Greco E, Tesarik J. Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. Hum Reprod. 2000 Nov;15(11):2269-77.

Behre HM, Bergmann M, Simoni M, Tüttelmann F. Primary Testicular Failure. 2015 Aug 30. In: Feingold KR, Anawalt B, Boyce A, Chrousos G, de Herder WW, Dungan K, Grossman A, Hershman JM, Hofland J, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Purnell J, Singer F, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.

Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, Rossato M. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod. 1998 Feb;13(2):302-7.

Franco G, Scarselli F, Casciani V, De Nunzio C, Dente D, Leonardo C, Greco PF, Greco A, Minasi MG, Greco E. A novel stepwise micro-TESE approach in non obstructive azoospermia. BMC Urol. 2016 May 12;16(1):20.

Ghanami Gashti N, Sadighi Gilani MA, Abbasi M. Sertoli cell-only syndrome: etiology and clinical management. J Assist Reprod Genet. 2021 Mar;38(3):559-572.

Gul U, Turunc T, Haydardedeoglu B, Yaycioglu O, Kuzgunbay B, Ozkardes H. Sperm retrieval and live birth rates in presumed Sertoli-cell-only syndrome in testis biopsy: a single centre experience. Andrology. 2013 Jan;1(1):47-51.

Ramphul K, Mejias SG. Sertoli-Cell-Only Syndrome. 2020 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.

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.

Yang Y, Ma MY, Xiao CY, Li L, Li SW, Zhang SZ. Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. Int J Androl. 2008 Dec;31(6):573-8.

FAQs from users: 'What may be the cause of Sertoli syndrome?' and 'Can I be a father if I have Sertoli syndrome?'.

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Authors and contributors

 Paloma de la Fuente Vaquero
Paloma de la Fuente Vaquero
M.D., Ph.D., M.Sc.
Gynecologist
Bachelor's Degree in Medicine from the Complutense University of Madrid, with a Master's Degree in Human Reproduction and a Doctorate in Medicine and Surgery from the University of Seville. Member of the Spanish Fertility Society (SEF) and the Spanish Society of Gynecology and Obstetrics (SEGO), she performs as a gynecologist specializing in assisted reproduction in the clinic IVI Sevilla. More information about Paloma de la Fuente Vaquero
License: 4117294
 Silvia Azaña Gutiérrez
Silvia Azaña Gutiérrez
B.Sc., M.Sc.
Embryologist
Graduate in Health Biology from the University of Alcalá and specialized in Clinical Genetics from the same university. Master in Assisted Reproduction by the University of Valencia in collaboration with IVI clinics. More information about Silvia Azaña Gutiérrez
License: 3435-CV
Adapted into english by:
 Cristina  Algarra Goosman
Cristina Algarra Goosman
B.Sc., M.Sc.
Psychologist
Graduated in Psychology by the University of Valencia (UV) and specialized in Clinical Psychology by the European University Center and specific training in Infertility: Legal, Medical and Psychosocial Aspects by University of Valencia (UV) and ADEIT.
More information about Cristina Algarra Goosman
Member number: CV16874

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