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Sertoli Cell-Only Syndrome

Del Castillo Syndrome

Sertoli cell-only syndrome (SCOS) is an uncommon medical disorder that results in male infertility. It is characterized by the presence of solely Sertoli cells in the seminiferous tubules' lining.


Presentation

Sertoli cell-only syndrome (SCOS) is a rare testicular condition and is primarily idiopathic or, less frequently, associated with other underlying pathologies. The primary reason due to which men seek medical advice is infertility; additional manifestations may complicate the clinical picture when SCOS is induced by other diseases.

Patients are male, belong to the age group of 20 to 40 and present due to reported infertility. A clinical examination of the testes usually reveals no shape or other irregularities, but a significant atrophy could be present in certain cases. Gynecomastia is not present and all masculine characteristics are found normal. Some patients with Sertoli cell-only syndrome may exhibit varicocele, that is mainly bilateral [1]. The aforementioned clinical picture refers to cases of SCOS that are later diagnosed as idiopathic.

This medical condition, however, can also be secondary to other disorders. Klinefelter syndrome, exposure to toxins or chemicals, radiation therapy, and profound trauma have all been associated with SCOS. Symptoms related to the underlying pathology are therefore present in an occasion of secondary SCOS. More specifically, amongst the karyotype defects linked to the syndrome, Klinefelter syndrome has been documented as the most common genetic abnormality [2]; these patients exhibit a variety of manifestations complementary to infertility, including speech defects, sexual dysfunction, long arms and legs, reduced facial, body, and pubic hair, tremor, and cardiovascular problems [3] [4] [5]. A physical examination of patients with Sertoli cell-only syndrome developing as a result of Klinefelter syndrome is also expected to reveal hypospadias, epispadias, or micropenis. Gynecomastia may be frequently seen in these cases.

Lastly, a single literary report has documented a patient with SCOS who was diagnosed with insulinoma [6]. A confirmed association between these two medical entities has, however, yet to be established.

Aspiration
  • You may want to do a search in PubMed at PubMed home My DH did a fine needle aspiration (FNA) 'mapping' which didn't find any sperm. However, FNA is less effective than mTESE so we're planning to do mTESE.[fertilethoughts.com]
  • .), and fine needle aspiration cytology (FNAC) of testes (bilateral) were performed.[ijem.in]
  • Testicular fine needle aspiration as a diagnostic tool in non-obstructive azoospermia. Asian J Androl. 2005 Sep. 7(3):289-94. [Medline]. Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, et al.[emedicine.com]
Chronic Cough
  • Your recognised location is United States (US) Chronic cough in a child This article is freely available only to users in the UK.[evidence.nhs.uk]
Normal Stature
  • The patient had normal stature considering midparental height. He also had no germ cells in the testicular tissue (Sertoli-cell-only syndrome) resulting from the loss of azoospermia factor in Yq.[ncbi.nlm.nih.gov]
Suggestibility
  • Testosterone levels are in the low normal range suggesting that Leydig cells may also be affected by the etiological factor producing the syndrome.[ncbi.nlm.nih.gov]
  • Reserve capacity of Leydig cells in patients with Sertoli-cell-only syndrome was considered to be preserved as suggested by the human chorionic gonadotropin stimulation test.[ncbi.nlm.nih.gov]
  • Differences between incomplete (23.3%) and complete (4.5%) MA cases regarding AZFc and DAZ1/DAZ2 deletion frequencies, and between incomplete (58.3%) and complete (11.1%) SCOS cases for AZFc deletions, suggest that incomplete syndromes might represent[ncbi.nlm.nih.gov]
  • Abstract Several observational studies have showed a combination of lower testosterone (T) to LH ratio and higher estradiol (E 2 ) to T ratio in secretory infertile men compared to men with normal spermatogenesis, suggesting a steroidogenic dysfunction[ncbi.nlm.nih.gov]
  • Negative DDX4 cfs-mRNA suggestive of SCO was found in 13.7% of NOA patients, with a similar incidence in NOA men with known genetic causes and those without known genetic causes.[ncbi.nlm.nih.gov]
Confusion
  • Both patterns, with different prognosis to retrieve spermatozoa by therapeutic testicular biopsy, are frequently confused when TESE is performed during ICSI programmes.[ncbi.nlm.nih.gov]
  • It is suggested that the condition is more common than hitherto reported and is often confused with maturation arrest. Testicular histopathology should be done by specialists in testicular pathology.[ncbi.nlm.nih.gov]

Workup

Patients who seek medical advice due to infertility are subjected to a series of blood and semen laboratory examinations, in order to detect the specific cause. In order for Sertoli cell-only syndrome to be accurately diagnosed, the following laboratory tests are required:

  • Hormonal studies: follicle-stimulating hormone (FSH) and testosterone levels are a vital parameter. Patients affected by SCOS are usually found to have increased levels of FSH (>3 times the reference range value) with a normal testosterone count [7]. Anti-Mullerian hormone (AMH) concentration is usually decreased, as is serum inhibin B.
  • Semen analysis: azoospermia. Rarely, spermatogenetic foci may be illustrated in an SCOS testis.

Karyotyping, luteinizing hormone (LH) levels, and prolactin levels are not ordered as routine tests in a possible SCOS case. However, the karyotype of the male patients is expected to be normal, but microdeletions on the Y chromosome are possible.

The decisive diagnosis of Sertoli cell-only syndrome is made via a testicular biopsy, that will reveal the complete germ cell absence and the seminiferous tubules that are exclusively lined by Sertoli cells.

Treatment

  • Abstract Histological study of testicular biopsies from infertile men showing Sertoli-cell-only tubules due to hypogonadotropic hypogonadism, cryptorchidism, oestrogen treatment, chemotherapy or Del Castillo's syndrome, revealed four types of Sertoli[ncbi.nlm.nih.gov]
  • In two patients with the Sertoli-cell-only syndrome, oestrogen treatment induced marked variations in serum testosterone levels, which appeared to be related to the LH changes.[ncbi.nlm.nih.gov]
  • Two followed treatment of malignancy--one by radiation for testicular cancer and one by cyclophosphamide for a lymphoma. One had unilateral cryptorchidism. Mumps was etiological factor in one patient.[ncbi.nlm.nih.gov]
  • After 6 weeks of treatment with long-acting testosterone esters administered weekly (250 mg), the exaggerated responses for both FSH and LH were decreased.[ncbi.nlm.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Both patterns, with different prognosis to retrieve spermatozoa by therapeutic testicular biopsy, are frequently confused when TESE is performed during ICSI programmes.[ncbi.nlm.nih.gov]
  • As successful TESE was achieved in 87.5% of MA cases with AZFc and DAZ1/DAZ2 deletions and in 58.3% of SCOS cases with AZFc deletions, the present results also suggest that these molecular markers might be used for the establishment of a prognosis before[ncbi.nlm.nih.gov]
  • He is the best fertility urologist that I know for male factor infertility: www.theturekclinic.com Here is more information which I found from Prognosis Sertoli-cell-only (SCO) syndrome remains a stable condition with no appreciable improvement in prognosis[medhelp.org]
  • Prognosis Sertoli-cell-only (SCO) syndrome remains a stable condition with no appreciable improvement in prognosis or sperm production.[emedicine.com]

Etiology

  • Testosterone levels are in the low normal range suggesting that Leydig cells may also be affected by the etiological factor producing the syndrome.[ncbi.nlm.nih.gov]
  • -The etiology (1) :- Most causes of SCO syndrome are idiopathic. A congenital absence of germ cells due to failure of migration of gonocytes is theoretically possible.[simple-med.blogspot.com]
  • ., Klinefelter Syndrome), and mutations in both alleles of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be found, depending upon the etiology of the reproductive compromise.A genetic abnormality is identified in 1/4 th of the[drramayyas.blogspot.com]
  • While investigation to identify a cause of SCO syndrome is ongoing, the etiology and mechanism of this process are currently unknown. No known effective treatment exists, but these men may be able to reproduce with assisted reproductive technology.[emedicine.com]

Epidemiology

  • Department of Urology , Osaka University Graduate School of Medicine , Suita , Japan. 3 c Department of Integrated Cancer Therapy and Urology , Kanazawa University Graduate School of Medical Science , Kanazawa , Japan. 4 d Division of Community Medicine and Epidemiology[ncbi.nlm.nih.gov]
  • Epidemiology The prevalence of SCO syndrome in the overall population is extremely low. Approximately 10% of US couples are affected by infertility.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Seminal plasma protein TEX101 was proposed for differentiation of Sertoli cell-only syndrome from maturation arrest and hypospermatogenesis. [3] Pathophysiology Sertoli cell only syndrome is likely multifactorial, and characterized by severely reduced[ipfs.io]
  • This study should excite more specific work to explore underlying pathophysiology that, in future, could help in management of SCOS cases. 1. Josso N, Legeai L, Forest MG, Chaussain JL, Brauner R.[ijem.in]
  • Pathophysiology SCO syndrome is a condition of the testes. Involvement of other organ systems is rare but is secondary to the underlying condition causing SCO syndrome.[medhelp.org]
  • Hyperprolactinemia: pathophysiology and management. Treat Endocrinol. 2003;2:23-32. Lamberts SW, Quik RF. A comparison of the efficacy and safety of pergolide and bromocriptine in the treatment of hyperprolactinemia.[rarediseases.org]
  • Pathophysiology Sertoli cells have in general have several functions. They provide support to the developing spermatogonia and secrete a number of substances that aid in fetal development.[emedicine.com]

Prevention

  • Early treatment of varicocele is very important in the prevention of this condition, but once diagnosis is done, little can be done to improve it.[natural-health-for-fertility.com]
  • ART bypasses the critical natural selection barriers that normally prevent genetic disease transmission.[drramayyas.blogspot.com]
  • Perhaps the most obvious cause would be in men who have had a vasectomy, which prevents sperm from joining other fluids in the ejaculate.[malefertility.jhu.edu]
  • L -methionine (5 mM final) was added to prevent methionine oxidation in tryptic peptides. Extraction of peptides from solution and SRM quantification were accomplished as mentioned above.[doi.org]

References

Article

  1. Gat Y, Gornish M, Perlow A, et al. Azoospermia and Sertoli-cell-only syndrome: hypoxia in the sperm production site due to impairment in venous drainage of male reproductive system. Andrologia. 2010;42(5):314-321.
  2. Stouffs K, Gheldof A, Tournaye H, et al. Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. BioMed Research International Volume 2016 (2016), ID 6191307.
  3. Robinson A, Bender BG, Linden MG, Salbenblatt JA. Sex chromosome aneuploidy: the Denver Prospective Study. Birth Defects Orig Artic Ser. 1990;26(4):59-115.
  4. Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2001;40(12):639-651.
  5. Völkl TM, Langer T, Aigner T, et al. Klinefelter syndrome and mediastinal germ cell tumors. Am J Med Genet A. 2006;140(5):471-481.
  6. Malabu U, Gowda D, Tan YM. Insulinoma Presenting with Long-Standing Depression, Primary Hypogonadism, and Sertoli Cell Only Syndrome. Case Rep Endocrinol. 2013; 2013: 926385.
  7. Hanmayyagari B, Guntaka M, Srinagesh. A rare case of male infertility: Sertoli only syndrome. CHRISMED Journal of Health and Research. 2015;2:64-67.

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Last updated: 2019-06-28 10:00