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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 2  |  Issue : 1  |  Page : 64-67

A rare case of male infertility: Sertoli only syndrome


1 Department of Endocrinology, Krishna Institute of Medical Sciences, Kondapur, India
2 Department of Biochemistry, Chalmeda Anand Rao Institute of Medical Sciences, Bommakal, Karimnagar, Telangana, India
3 Department of Endocrinology, Care Hospital, Hyderabad, Andhra Pradesh, India

Date of Web Publication14-Jan-2015

Correspondence Address:
Babulreddy Hanmayyagari
Flat No-507, Emerald Block, My Home Jewel, Madinaguda, Hyderabad - 500 049, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2348-3334.149350

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  Abstract 

Sertoli cell-only syndrome (SCOS) is not an uncommon finding in testicular biopsies that are performed in patients with infertility. The salient histopathologic feature of SCOS is the absence of germ cells. Many of these patients have a normal karyotype and normal secondary male sexual characteristics, yet are infertile and azoospermic or severe oligozoospermic. This case report describes a 29-year-old male patient who presented with primary infertility, normal physical characteristics and hormonal profile with SCOS detected on testicular biopsy.

Keywords: Infertility, sertoli cell only syndrome, testicular biopsy


How to cite this article:
Hanmayyagari B, Guntaka M, Srinagesh. A rare case of male infertility: Sertoli only syndrome . CHRISMED J Health Res 2015;2:64-7

How to cite this URL:
Hanmayyagari B, Guntaka M, Srinagesh. A rare case of male infertility: Sertoli only syndrome . CHRISMED J Health Res [serial online] 2015 [cited 2017 Jul 21];2:64-7. Available from: http://www.cjhr.org/text.asp?2015/2/1/64/149350


  Introduction Top


Sertoli cell-only syndrome (SCOS) is not an uncommon finding in testicular biopsies that are performed in patients with infertility. [1] The salient histopathologic feature of SCOS is the absence of germ cells. [2] Many of these patients are karyotypically normal and have normal secondary male sexual characteristics, yet are infertile and azoospermic or oligozoospermic. During the 1990s, intracytoplasmic sperm injection (ICSI) was introduced, which brought new relevance to the testicular biopsy, transforming it into a therapeutic, as well as a diagnostic procedure. [3] Certain histo-pathological features in testicular biopsies in patients with SCOS have been found to correlate with successful sperm retrieval procedures, principally the finding of focal clustered tubules containing maturing germ cells (so-called mixed testicular atrophy), thus underlining the utility of this procedure.


  Case Report Top


A 29-year-old male patient presented with primary infertility. He was married 7 years ago, and married life has been uninterrupted. There was no history of decreased libido and shaving frequency or erectile dysfunction. His medical history was negative for mumps, chronic systemic disease, galactorrhea, urogenital infections with Chlamydia and Mycoplasma, syphilis, tuberculosis or hypothyroidism, chemotherapy, radiotherapy or hormone therapy.

On examination, height was 170 cm, weight 74 kg, upper segment to lower segment ratio was 0.9, facial hair and body hair were normal. He had temporal recession of hair, and he did not have goitre or gynecomastia. Sexual maturity rating was A3 P5 with a testicular volume of 20 ml bilaterally. Vitals and systemic examination were normal.

Hemoglobin was 11.9% with a total leukocyte count of 6000/cumm, erythrocyte sedimentation rate was 10 mm, random blood sugar - 96 mg/dl, serum creatinine - 0.9 mg/dl and liver function tests were normal. Semen analysis showed azoospermia on three consecutive samples even after centrifugation. T3 was 1.6 ng/ml, T4-9.2 μg/dl and thyroid stimulating hormone - 2.3 μIU/ml (0.3-5.5), Prolactin-15 ng/ml (9-20), Estradiol-18 pg/ml (14-50). Follicle-stimulating hormone (FSH) was 19.6 mIU/ml, luteinizing hormone 8.4 mIU/ml and total testosterone-750 ng/dl. Ultra-sonogram of the scrotum showed normal testicular volume with normally visualized epididymis, vas deferens and there was no evidence of varicocele. His testicular biopsy revealed SCOS.

Patient blessed with fatherhood after we offered assisted reproductive technology (ART), where he underwent the ICSI procedure after testicular sperm extraction (TESE).


  Discussion Top


Primary testicular failure occurs in approximately 1% of all males, and is present in 10% of those obtaining medical consultation for infertility. [1] SCOS, [1],[4] also known as germinal cell aplasia, can be found in a few testicular biopsies that are performed in these patients. The pathognomonic feature of SCOS is the absence of germ cells. The seminiferous tubules are lined by  Sertoli cells More Details that may be either immature (prepubertal) or mature or have other changes that may correlate with specific etiologies and clinical findings. Many of these patients have a normal XY karyotype with normal secondary male sexual characteristics, yet are infertile and azoospermic or severe oligozoospermic.

In the normal seminiferous tubules, germ cells outnumber Sertoli cells approximately 13:1, and the adult Sertoli cells have irregularly shaped (sometimes triangular) nuclei, pale chromatin, and prominent nucleoli and are basal in location. Adult seminiferous tubules average 180 mm in diameter and have open tubular Lumens. [5] Five morphological variants of SCOS including immature, dysgenetic, mature (adult-type), involuting, and de-differentiated have been recognized and were useful in assessing the etiology. [4],[6],[7]

Etiology

The most common age at presentation is 20-40 years. Most causes of SCOS syndrome are idiopathic. The putative pathogenesis is failure of migration of germ cells from the primitive yolk sac to the gonadal ridge. [8]

In spite of this, the Sertoli cells, under normal hormonal regulation, develop relatively normally. Massive deletions in the azoospermia factor (AZF) region of the Y chromosome, specifically in AZFb/b + c, have been found in men with SCO syndrome. [9] Y-chromosome microdeletions are also identified as a cause of SCOS syndrome, [10] other causes include irradiation, cancer chemotherapy and exposure to chemicals and toxins. [11] However, the direct cause-and-effect relationships in humans have been difficult to document. Viral orchitis has also been proposed as an etiological factor. Klinefelter syndrome, 47 XXY, also results in a characteristic biopsy appearance of SCOS and Leydig cell hyperplasia. [8]

Patho-physiology

Immaturity or dysfunction of Sertoli cells due to the above-mentioned causes is a proposed pathophysiology, but this hypothesis have also been refuted. [12]

Diagnosis

These patients exhibit normal secondary male sexual characteristics, semen analysis shows azoospermia or severe oligozoospermia, biochemical parameters show low inhibin B, high FSH and low anti-Mullerian hormone (AMH) levels with normal testosterone levels, but ultimately a diagnosis of SCOS depends on histo-pathology which reveals absence of germ cells. Subjects with SCOS have a normal karyotype.(Normal 46, XY karyotype, as shown Giemsa-trypsin [G-banding], but on polymerase chain reaction amplification or fluorescence in situ hybridisation microdeletions of the Y chromosome are seen, rarely macroscopic deletions of the Y-chromosome long arm that are detectable by karyotyping [i.e. 46, X, Yq ]). [Figure 1] shows the suggested endocrine work up for male infertility. [13]
Figure 1: Suggested endocrine work up of male infertility

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Management

There is no known effective medical therapy is available for SCOS, but these men can reproduce with ART. TESE may be offered to couples considering in vitro fertilization (IVF)/ICSI. Genetic counseling of parents is important as there is a potential risk for transfer of Y microdeletions to the offspring. [14] Other options are IVF with donor sperm or adoption.

For the prognostic purpose, Anniballo et al. [1] divided SCOS into two categories: Pure (congenital) and mixed (secondary). The pure form is caused by failure of migration of germ cells, [15] while the mixed form is related to the postnatal damage to previously healthy testicular tissue. Retrieving germ cells in cases of pure SCOS is the impossible [16] and proper identification of the type of SCOS is essential to spare unnecessary medical expense and inconvenience to patients. The combination of increased inhibin B and normal serum FSH levels also indicates the presence of spermatids. [17] ICSI and TESE can be useful in retrieving sperm from these men with mixed SCOS. [18],[19]


  Conclusion Top


Sertoli cell-only syndrome is a rare cause of male infertility and more studies are needed in SCOS at genomic, epigenomic, and proteomic levels, in order to find underlying etiology and thereby specific management, for this entity.


  Limitations Top


We have not done Y chromosome microdeletion analysis, AMH and inhibin B levels in our patient largely because these assays are not available at our center. Nevertheless we believe this article will refresh the knowledge of clinicians on this rare syndrome.

 
  References Top

1.
Anniballo R, Ubaldi F, Cobellis L, Sorrentino M, Rienzi L, Greco E, et al. 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;15:2269-77.  Back to cited text no. 1
    
2.
Del Castillo EB, Trabucco A, De la Balze FA. Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocrinol Metab 1947;7:493-502.  Back to cited text no. 2
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3.
Van Steirteghem AC, Nagy Z, Joris H, Liu J, Staessen C, Smitz J, et al. High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod 1993;8:1061-6.  Back to cited text no. 3
    
4.
Nistal M, Paniagua R. Non-neoplastic diseases of the testis. In: Bostwick DG, Eble JN, editors. Urologic Surgical Pathology. St. Louis: Mosby; 1997. p. 498-501.  Back to cited text no. 4
    
5.
Trainer TD. Testis and excretory duct system. In: Sternberg SS, editor. Histology for Pathologists. 2 nd ed. Philadelphia: Lippincott-Raven Publishers; 1997. p. 1019-28.  Back to cited text no. 5
    
6.
Nistal M, Jimenez F, Paniagua R. Sertoli cell types in the Sertoli-cell-only syndrome: Relationships between Sertoli cell morphology and aetiology. Histopathology 1990;16:173-80.  Back to cited text no. 6
    
7.
Nistal M, Paniagua R. Testicular biopsy. Contemporary interpretation. Urol Clin North Am 1999;26:555-93, vi.  Back to cited text no. 7
    
8.
Nistal M, Jimenez F, Paniaqua R. Sertoli cell types in the Sertoli-cell-only syndrome: Relationships between Sertoli cell morphology and aetiology. Histopathology.1990;16:173-80.  Back to cited text no. 8
    
9.
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;31:573-8.  Back to cited text no. 9
    
10.
Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy. J Clin Endocrinol Metab 2007;92:762-70.  Back to cited text no. 10
    
11.
Nistal M, Jimenez F, Paniagua R. Sertoli cell types in the Sertoli-cell-only syndrome: Relationships between Sertoli cell morphology and aetiology. Histopathology 1990;16:173-80.  Back to cited text no. 11
    
12.
Jain M, Halder A. Sertoli cell only syndrome: Status of sertoli cell maturation and function. Indian J Endocrinol Metab 2012;16:S512-3.  Back to cited text no. 12
    
13.
Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, et al. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod 1998;13:302-7.  Back to cited text no. 13
    
14.
Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu BL, et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 2002;71:162-4.  Back to cited text no. 14
    
15.
Wartenberg H. Differentiation and development of the testes. In: Burger A, de Kretser, DM, editors, The Testis. New York, USA: Raven Press; 1989. p. 67-118.  Back to cited text no. 15
    
16.
Su LM, Palermo GD, Goldstein M, Veeck LL, Rosenwaks Z, Schlegel PN. Testicular sperm extraction with intracytoplasmic sperm injection for nonobstructive azoospermia: Testicular histology can predict success of sperm retrieval. J Urol 1999;161:112-6.  Back to cited text no. 16
    
17.
von Eckardstein S, Simoni M, Bergmann M, Weinbauer GF, Gassner P, Schepers AG, et al. Serum inhibin B in combination with serum follicle-stimulating hormone (FSH) is a more sensitive marker than serum FSH alone for impaired spermatogenesis in men, but cannot predict the presence of sperm in testicular tissue samples. J Clin Endocrinol Metab 1999;84:2496-501.  Back to cited text no. 17
    
18.
Schwarzer JU, Fiedler K, v Hertwig I, Krüsmann G, Würfel W, Schleyer M, et al. Sperm retrieval procedures and intracytoplasmatic spermatozoa injection with epididymal and testicular sperms. Urol Int 2003;70:119-23.  Back to cited text no. 18
    
19.
Seo JT, Ko WJ. Predictive factors of successful testicular sperm recovery in non-obstructive azoospermia patients. Int J Androl 2001;24:306-10.  Back to cited text no. 19
    


    Figures

  [Figure 1]


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