Identification of Genomic imbalances (CNVs as well as LOH) in Sertoli Cell Only Syndrome cases through Cytoscan Microarray

Background: Sertoli cell only syndrome (SCOS) or germ cell aplasia is characterized by the existence of only sertoli cells in the seminiferous tubule without any germ cells. SCOS is a multifactorial disorder but genetic factors play a major role in pathogenesis of idiopathic SCOS. Case Presentation: Two cases of idiopathic SCOS had been reported with no non-genetic factor in their medical history that could play a role in aetiology of SCOS. Also, two normal fertile males were recruited as controls in this study. For evaluation of genomic imbalance, karyotyping (G-banding), FISH, STS-PCR and SNP microarray were carried out. SNP microarray was carried out in DNA of peripheral blood for cases as well as controls. However, for cases, SNP microarray was conducted in DNA of testicular Fine needle aspiration cytology (FNAC). Conclusion: No chromosome abnormality and Yq microdeletion was found in cases as well as in controls. Microarray detected many CNVs and LOH that cover genes with spermatogenesis related function and PAR CNVs in both cases. Differential genomic variations were found in blood and testis for cases. Therefore, the evaluation of pathogenesis of idiopathic SCOS might be dependent on both tissue samples. The evaluation of genomic imbalances at both tissue levels should be done for a large cohort of patients.

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Freeze-etch observations on the tight junctions of sertoli cells grown in organ culture with FSH

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s042482010008256x ◽

1978 ◽

Vol 36 (2) ◽

pp. 340-341

Author(s):

Rita Meyer ◽

Zoltan Posalaky ◽

Dennis Mcginley

Keyword(s):

Organ Culture ◽

Tight Junctions ◽

Sertoli Cell ◽

Germ Cells ◽

Sertoli Cells ◽

Barrier Function ◽

Cell Junction ◽

Intramembranous Particles ◽

Junctional Complexes ◽

Oriented Parallel

The Sertoli cell tight junctional complexes have been shown to be the most important structural counterpart of the physiological blood-testis barrier. In freeze etch replicas they consist of extensive rows of intramembranous particles which are not only oriented parallel to one another, but to the myoid layer as well. Thus the occluding complex has both an internal and an overall orientation. However, this overall orientation to the myoid layer does not seem to be necessary to its barrier function. The 20 day old rat has extensive parallel tight junctions which are not oriented with respect to the myoid layer, and yet they are inpenetrable by lanthanum. The mechanism(s) for the control of Sertoli cell junction development and orientation has not been established, although such factors as the presence or absence of germ cells, and/or hormones, especially FSH have been implicated.

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1419: A Multi-Step Kinase-Based Sertoli Cell Autocrine-Amplifying Loop Regulates Prostaglandins, their Receptors, and Cytokines

The Journal of Urology ◽

10.1016/s0022-5347(18)33623-1 ◽

2006 ◽

Vol 175 (4S) ◽

pp. 458-458

Author(s):

Tomomoto Ishikawa ◽

Masato Fujisawa ◽

Patricia L. Morris

Keyword(s):

Sertoli Cell

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STAGE-DEPENDENT SERTOLI CELL FUNCTIONS

Acta Endocrinologica ◽

10.1530/acta.0.103s053 ◽

1983 ◽

Vol 104 (2_Supplb) ◽

pp. S53-S57 ◽

Cited By ~ 1

Author(s):

M Parvinen

Keyword(s):

Sertoli Cell ◽

Cell Functions

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NEW VIEWS ON THE HORMONE-PRODUCING MESENCHYMOMAS OF THE OVARIES

Acta Endocrinologica ◽

10.1530/acta.0.xxxv0513 ◽

1960 ◽

Vol XXXV (IV) ◽

pp. 513-517

Author(s):

W. P. Plate

Keyword(s):

Granulosa Cell ◽

Sertoli Cell ◽

Leydig Cell ◽

Cell Tumour ◽

Theca Cell ◽

Granulosa Cell Tumour ◽

Sertoli Cell Tumours ◽

Leydig Cell Tumours

ABSTRACT The hormone-producing mesenchymomas of the ovaries can be divided into androblastomas and gynaecoblastomas. The former are derived from »male« elements, and consist of Sertoli-cell tumours and Leydig-cell tumours. The latter arise from »female« elements and consist of granulosacell tumours and theca-cell tumours. Sertoli-cell tumours and granulosacell tumours produce oestrogens, while Leydig-cell tumours and theca-cell tumours produce oestrogens or androgens. Histologically, androblastomas and gynaecoblastomas are often difficult to distinguish. Since no »female« elements occur in a testicle, a granulosa-cell tumour in a testicle is improbable. Gynandroblastomas, therefore, can only be found in an ovary.

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Acute reduction of Sertoli cell numbers during development leads to a subsequent reduction in sperm numbers in adulthood

Reproduction Abstracts ◽

10.1530/repabs.1.p242 ◽

2014 ◽

Author(s):

Annalucia L Darbey ◽

Peter O'Shaughnessy ◽

Jean-Luc Pitetti ◽

Serge Nef ◽

Lee Smith ◽

...

Keyword(s):

Sertoli Cell ◽

Subsequent Reduction ◽

Cell Numbers

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Spermatogenesis and testicular tumours in ageing dogs

Reproduction ◽

10.1530/reprod/120.2.443 ◽

2000 ◽

pp. 443-452 ◽

Cited By ~ 20

Author(s):

MA Peters ◽

DG de Rooij ◽

KJ Teerds ◽

I van Der Gaag ◽

FJ van Sluijs

Keyword(s):

Sertoli Cell ◽

Leydig Cell ◽

Seminiferous Tubules ◽

Score System ◽

Testicular Tumours ◽

Severe Impairment ◽

Per Se ◽

Testicular Disease ◽

Sertoli Cell Tumours ◽

Leydig Cell Tumours

Spermatogenesis was examined in testes from 74 dogs of various breeds without clinically detected testicular disease. A modified Johnsen score system was used to determine whether spermatogenesis deteriorates with ageing. The diameter of seminiferous tubules was measured in dogs without testicular disease to examine other possible effects of ageing on tubular performance. There appeared to be no relation between age and these variables. The influence of testicular tumours on spermatogenesis was also investigated in both affected and unaffected testes. The testes of 28 dogs with clinically palpable tumours and 21 dogs with clinically non-palpable tumours were investigated. In cases of unilateral occurrence of a tumour, impairment of spermatogenesis was observed only in the affected testis of dogs with clinically detected tumours. Bilateral occurrence of tumours, whether detected clinically or non-clinically, was associated with severe impairment of spermatogenesis. The prevalence of tumours increased during ageing. Eighty-six per cent of the clinically detected and 57% of the non-clinically detected tumours were found in old dogs. Multiple types of tumour and bilateral occurrence were very common. Seminomas and Leydig cell tumours were more frequent than Sertoli cell tumours. It was concluded that spermatogenesis per se did not decrease during ageing in dogs but the occurrence of testicular tumours increased with ageing and affected spermatogenesis significantly, as reflected by a lower Johnsen score.

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