Dataset Information

Sertoli cell-only syndrome: etiology and clinical management.

ABSTRACT: Almost 50% of infertility cases are due to male factors, and spermatogenesis failure is one of the most severe forms of male infertility. Sertoli cell-only syndrome (SCOS) also known as germ cell aplasia is characterized by azoospermia in which the seminiferous tubules of testicular biopsy are lined only with Sertoli cells. The definitive diagnosis of SCOS is by diagnostic testicular biopsy. Although SCOS may be a result of Klinefelter syndrome, most of the SCOS men have a normal karyotype. Along with genetic aberrations, signaling pathways and endocrine processes might be major factors in the development of SCOS. Sperm retrieval and intracytoplasmic sperm injection (ICSI) are available treatments for SCOS. However, some SCOS patients do not have therapeutic options to help them having a biological child. This review aims to summarize our present knowledge about SCOS and to highlight the importance of future researches in the diagnosis and treatment of this disorder.

SUBMITTER: Ghanami Gashti N

PROVIDER: S-EPMC7910341 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Sertoli cell-only syndrome: etiology and clinical management.

Ghanami Gashti Nasrin N Sadighi Gilani Mohammad Ali MA Abbasi Mehdi M

Journal of assisted reproduction and genetics 20210111 3

Almost 50% of infertility cases are due to male factors, and spermatogenesis failure is one of the most severe forms of male infertility. Sertoli cell-only syndrome (SCOS) also known as germ cell aplasia is characterized by azoospermia in which the seminiferous tubules of testicular biopsy are lined only with Sertoli cells. The definitive diagnosis of SCOS is by diagnostic testicular biopsy. Although SCOS may be a result of Klinefelter syndrome, most of the SCOS men have a normal karyotype. Alon ...[more]

PMID: 33428073

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Project description:Sertoli cell-only syndrome (SCOS) is the most severe and common pathological type of non-obstructive azoospermia. The etiology of SCOS remains largely unknown to date despite a handful of studies reported in this area. According to the gene expression of testicular tissue samples in six datasets from the Gene Expression Omnibus, we detected 1441 differentially expressed genes (DEGs) between SCOS and obstructive azoospermia (OA) testicular tissue samples. Enriched GO terms and KEGG pathways for the downregulated genes included various terms and pathways related to cell cycle and reproduction, while the enrichment for the upregulated genes yielded many inflammation-related terms and pathways. In accordance with the protein-protein interaction (PPI) network, all genes in the most critical module belonged to the downregulated DEGs, and we obtained nine hub genes, including CCNB1, AURKA, CCNA2, BIRC5, TYMS, UBE2C, CDC20, TOP2A, and OIP5. Among these hub genes, six were also found in the most significant SCOS-specific module obtained from consensus module analysis. In addition, most of SCOS-specific modules did not have a consensus counterpart. Based on the downregulated genes, transcription factors (TFs) and kinases within the upstream regulatory network were predicted. Then, we compared the difference in infiltrating levels of immune cells between OA and SCOS samples and found a significantly higher degree of infiltration for most immune cells in SCOS than OA samples. Moreover, CD56bright natural killer cell was significantly associated with six hub genes. Enriched hallmark pathways in SCOS had remarkably more upregulated pathways than the downregulated ones. Collectively, we detected DEGs, significant modules, hub genes, upstream TFs and kinases, enriched downstream pathways, and infiltrated immune cells that might be specifically implicated in the pathogenesis of SCOS. These findings provide new insights into the pathogenesis of SCOS and fuel future advances in its theranostics.

Project description:IntroductionHematospermia is an uncommon symptom but can cause significant anxiety among the patient and his partner. The available data on the underlying etiology, management and outcome are variable and inconsistent. This systematic review was aimed to describe the clinical characteristics, etiology, treatment and outcomes of hematospermia.MethodsKeywords were searched in PubMed, Scopus, LILACS and Google Scholar. Relevant articles were manually added from the list of references of eligible articles. Studies with a considerable assessment of patients with hematospermia were included. Qualitative analysis was performed using the available data.ResultsTwenty studies (Fifteen prospective and five retrospective, n=2079 patients, mean age =46.2 (range: 15-89) years) were eligible. Community screening reported a 0.5% prevalence of hematospermia (one study). Majority had hematospermia as the main/only symptom while dysuria (n=38/232, 16.4%), lower urinary tract symptoms (n=113/833, 13.6%), Hematuria (65/566, 11.5%) and testicular pain (n=68/631, 10.7%), were associated in some patients. Suspicious rectal examination (one study) and elevated PSA (Prostate Specific Antigen) levels (four studies) were indicative of sinister pathologies. Common etiologies were urogenital infections/inflammatory conditions followed by prostatic, seminal vesicular or urethral calculi. Malignancies were detected in 5.4% (n=74/1362, 11 studies) of patients >40 years old and the majority had prostate cancers (67/74, 90.5%). Etiology was unknown in 51.8% (n=603/1163). Definitive treatment of the underlying etiology (n=260/347, 74.9%) resolved the symptoms while spontaneous resolution occurred in the vast majority 88.9% (n=168/189) with unknown etiology.ConclusionsHematospermia is relatively an innocent symptom. Malignancies are rare and occurred in men over 40 years. Clinical assessment including a rectal examination and a PSA level would be sufficient to identify most causes. Urogenital infections/inflammation and prostatic calculi are the commonly found etiologies. There was no identifiable cause in almost half of those with hematospermia. The majority has a benign course.

Dataset Information

Sertoli cell-only syndrome: etiology and clinical management.

Publications

Sertoli cell-only syndrome: etiology and clinical management.

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