For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
6
views
16
references
 Top references
cited by
1
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      347
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia— From Genetics to Clinical Practice

      case-report
      Author(s): 1 , , 2 , 3
      Publication date (Electronic):
      Journal: Case Reports in Endocrinology
      Publisher: Hindawi

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Azoospermia is diagnosed when no spermatozoa can be detected after centrifugation of seminal fluid on at least two separate occasions. A number of genetic disorders can be related to nonobstructive azoospermia, and in up to 15% of azoospermic males, a genetic disorder is diagnosed. A 36-year-old male with nonobstructive azoospermia was referred to our department of diabetes and endocrinology due to an aberrant testicular biopsy. The biopsy showed a disrupted spermatogenesis with a maturation arrest at the spermatocyte level in most tubuli seminiferi while others showed a Sertoli cell-only syndrome. Screening for Y chromosome microdeletions on peripheral blood using molecular analysis detected a terminal deletion of AZFbc. The result of karyotyping and fluorescence in situ hybridization (FISH) described an isodicentric Y chromosome with karyotype 46,X,idic(Y)(q11.22). Based on this case and the current available literature, we conclude that performing a testicular biopsy in patients with a nonmosaic idic(Y)(q) is not meaningful and that the prognosis on infertility is poor. Biological fatherhood is extremely unlikely in these patients, and proper counselling should be provided.

          Related collections

          Most cited references16

          • Record: found
          • Abstract: found
          • Article: found
          Is Open Access

          Clinical management of infertile men with nonobstructive azoospermia

          Sandro Esteves (2015)
          The clinical management of men with nonobstructive azoospermia (NOA) seeking fertility has been a challenge for andrologists, urologists, and reproductive medicine specialists alike. This review presents a personal perspective on the clinical management of NOA, including the lessons learned over 15 years dealing with this male infertility condition. A five-consecutive-step algorithm is proposed to manage such patients. First, a differential diagnosis of azoospermia is made to confirm/establish that NOA is due to spermatogenic failure. Second, genetic testing is carried out not only to detect the males in whom NOA is caused by microdeletions of the long arm of the Y chromosome, but also to counsel the affected patients about their chances of having success in sperm retrieval. Third, it is determined whether any intervention prior to a surgical retrieval attempt may be used to increase sperm production. Fourth, the most effective and efficient retrieval method is selected to search for testicular sperm. Lastly, state-of-art laboratory techniques are applied in the handling of retrieved gametes and cultivating the embryos resulting from sperm injections. A coordinated multidisciplinary effort is key to offer the best possible chance of achieving a biological offspring to males with NOA.
          Article 0 comments Cited 56 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.

            Yueh-Ya Hsu (1994)
            Over 600 cases with a Y aneuploidy (other than non-mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism 45,X/46,XY (79 cases), 45,X/47,XYY (8 cases), and 45,X/46,XY/47,XYY (6 cases), all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. This review includes 11 cases of 46,XYp-; 90 cases of 46,XYq- (52 cases non-mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 cases non-mosaic and 25 cases 45,X mosaic); 8 cases of 46,X,i(Yp) (4 non-mosaic and 4 mosaic with 45,X); 12 cases of 46,X,i(Yq) (7 non-mosaic and 5 mosaic); 44 cases of 46,X,idic(Yq); 80 cases of 46,X, idic(Yp) (74 cases had breakpoints at Yq11 and 6 cases had breakpoints at Yq12); 130 cases of Y/autosome translocations (50 cases with a Y/A reciprocal translocation, 20 cases of Y/A translocation in 45,X males, 60 cases of Y/DP or Y/Gp translocations); 52 cases of Y/X translocations [47 cases with der(X); 4 cases with der(Y), and 1 case with 45,X with a der(X)], 7 cases of Y/Y translocations; 151 postnatally diagnosed cases of 45,X/46,XY; 14 postnatally diagnosed cases of 45,X/47,XYY; 18 cases of 45,X/46,XY/47,XYY; and 93 aforementioned prenatally diagnosed cases with a 45,X cell line. It is clear that in the absence of a 45,X cell line, the presence of an entire Yp or a region of it including SRY would lead to a male phenotype in an individual with a Y aneuploidy, whereas the lack of Yp invariably leads to a female phenotype with typical or atypical Ullrich-Turner syndrome (UTS). Once there is a 45,X cell line, regardless of whether there is Yp, Yq, or both Yp and Yq, or even a free Y chromosome in other cell line, there is an increased chance for that individual to be a phenotypic female with UTS manifestations or to have ambiguous external genitalia. This review once again shows a major difference in reported phenotypes between postnatally and prenatally diagnosed cases of 45,X/46,XY, 45,X/47,XYY, and 45,X/46,XY/47,XYY mosaicism. It appears that ascertainment bias can explain the fact that all known patients with postnatal diagnosis are phenotypically abnormal, while over 90% of prenatally diagnosed cases are reported to have a normal male phenotype. Further elucidation of major Y genes and their clinical significance can be expected in the rapidly expanding gene mapping projects. More, consequently better, phenotype/karyotype correlations can be anticipated at both the cytogenetic and the molecular level.
            Article 0 comments Cited 40 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Testicular biopsy: clinical practice and interpretation.

              Kamal Elzanaty, Gert R Dohle, Hans J Berkel (2011)
              Testicular biopsy was considered the cornerstone of male infertility diagnosis for many years in men with unexplained infertility and azoospermia. Recent guidelines for male infertility have limited the indications for a diagnostic testicular biopsy to the confirmation of obstructive azoospermia in men with normal size testes and normal reproductive hormones. Nowadays, testicular biopsies are mainly performed for sperm harvesting in men with non-obstructive azoospermia, to be used for intracytoplasmic sperm injection. Testicular biopsy is also performed in men with risk factors for testicular malignancy. In a subgroup of infertile men, there is an increased risk for carcinoma in situ of the testis, especially in men with a history of cryptorchidism and testicular malignancy and in men with testicular atrophy. Ultrasonographic abnormalities, such as testicular microlithiasis, inhomogeneous parenchyma and lesions of the testes, further increase the risk of carcinoma in situ (CIS) in these men. For an accurate histological classification, proper tissue handling, fixation, preparation of the specimen and evaluation are needed. A standardized approach to testicular biopsy is recommended. In addition, approaches to the detection of CIS of the testis testicular immunohistochemistry are mandatory. In this mini-review, we describe the current indications for testicular biopsies in the diagnosis and management of male infertility.
              Article 0 comments Cited 27 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Jolijn Van Cauwenberghe:
                ORCID: https://orcid.org/0000-0001-6922-6890
                Journal
                Journal ID (nlm-ta): Case Rep Endocrinol
                Journal ID (iso-abbrev): Case Rep Endocrinol
                Journal ID (publisher-id): CRIE
                Title: Case Reports in Endocrinology
                Publisher: Hindawi
                ISSN (Print): 2090-6501
                ISSN (Electronic): 2090-651X
                Publication date Collection: 2020
                Publication date (Electronic): 25 July 2020
                Volume: 2020
                Electronic Location Identifier: 8828740
                Affiliations
                1Antwerp University Hospital, Department of Diabetology-Endocrinology, Wilrijkstraat 10, 2650 Edegem, Belgium
                2Antwerp University Hospital, Department of Genetics, Wilrijkstraat 10, 2560 Edegem, Belgium
                3AZ Nikolaas, Department of Diabetology-Endocrinology, Moerlandstraat 1, 9100 Sint-Niklaas, Belgium
                Author notes

                Academic Editor: Suat Simsek

                Author information
                https://orcid.org/0000-0001-6922-6890
                Article
                DOI: 10.1155/2020/8828740
                PMC ID: 7399736
                PubMed ID: 32774944
                SO-VID: ab7903fd-074e-4b1e-b937-3a5ce4bba68c
                Copyright © Copyright © 2020 Jolijn Van Cauwenberghe et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 31 March 2020
                Date revision received : 21 June 2020
                Date accepted : 8 July 2020
                Categories
                Subject: Case Report

                Data availability:

                Comments

                Comment on this article

                scite_

                Similar content347

                See all similar

                Cited by1

                See all cited by

                Most referenced authors151

                See all reference authors