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      A newborn with ambiguous genitalia and a complex X;Y rearrangement

      case-report

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          Abstract

          Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females.

          Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated.

          Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity.

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          Consensus statement on management of intersex disorders.

          I.A. Hughes, C. Houk, S.F. Ahmed … (2006)
          The birth of an intersex child prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques, understanding psychosocial issues and in recognizing and accepting the place of patient advocacy. The Lawson Wilkins Paediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) considered it timely to review the management of intersex disorders from a broad perspective, to review data on longer term outcome and to formulate proposals for future studies. The methodology comprised establishing a number of working groups whose membership was drawn from 50 international experts in the field. The groups prepared prior written responses to a defined set of questions resulting from an evidence based review of the literature. At a subsequent gathering of participants, a framework for a consensus document was agreed. This paper constitutes its final form.
          Article 0 comments Cited 157 times – based on 0 reviews     Review now
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            How sexually dimorphic are we? Review and synthesis.

            Melanie Blackless, Anthony Charuvastra, Amanda Derryck … (2000)
            The belief that Homo sapiens is absolutely dimorphic with the respect to sex chromosome composition, gonadal structure, hormone levels, and the structure of the internal genital duct systems and external genitalia, derives from the platonic ideal that for each sex there is a single, universally correct developmental pathway and outcome. We surveyed the medical literature from 1955 to the present for studies of the frequency of deviation from the ideal male or female. We conclude that this frequency may be as high as 2% of live births. The frequency of individuals receiving "corrective" genital surgery, however, probably runs between 1 and 2 per 1,000 live births (0.1-0.2%). Am. J. Hum. Biol. 12:151-166, 2000. Copyright 2000 Wiley-Liss, Inc.
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              Disorders of sex development: new genes, new concepts.

              Makoto Ono, Vincent R. Harley (2013)
              Formerly known as 'intersex' conditions, disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. A complete revision of the nomenclature and classification of DSDs has been undertaken, which emphasizes the genetic aetiology of these disorders and discards pejorative terms. Uptake of the new terminology is widespread. DSDs affecting gonadal development are perhaps the least well understood. Unravelling the molecular mechanisms underlying gonadal development has revealed new causes of DSDs, although a specific molecular diagnosis is made in only ∼20% of patients. Conversely, identification of the molecular causes of DSDs has provided insight into the mechanisms of gonadal development. Studies of N-ethyl-N-nitrosourea mutagenesis in the mouse, and multigene diagnostic screening and genome-wide approaches, such as array-comparative genomic hybridization and next-generation sequencing, in patients with DSDs are accelerating the discovery of genes involved in gonadal development and DSDs. Furthermore, long-range gene regulatory mutations and multiple gene mutations are emerging as new causes of DSDs. Patients with DSDs, their parents and medical staff are confronted with challenging decisions regarding gender assignment, genital surgery and lifelong care. These advances are refining prognostic prediction and systematically improving the diagnosis and long-term management of children with DSDs.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Iran J Reprod Med
                Journal ID (iso-abbrev): Iran J Reprod Med
                Journal ID (publisher-id): IJRM
                Title: Iranian Journal of Reproductive Medicine
                Publisher: Research and Clinical Center for Infertility (Yazd, Iran )
                ISSN (Print): 1680-6433
                ISSN (Electronic): 2008-2177
                Publication date (Print): May 2014
                Volume: 12
                Issue: 5
                Pages: 351-356
                Affiliations
                [1 ] Department of Molecular Medicine, University of Pavia, Pavia, Italy.
                [2 ] Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
                [3 ] Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
                [4 ] Department of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, Italy.
                [5 ] Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
                Author notes
                Corresponding Author: Orsetta Zuffardi, Department of Molecular Medicine University of Pavia, Via Forlanini 27100, Pavia, Italy. Email: zuffardi@unipv.it, Tel: (+39) 3038298773
                Article
                Publisher ID: ijrm-12-351
                PMC ID: 4094661
                SO-VID: 98399a02-4bd9-486b-8400-d00abcd69fb5
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License, ( http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 12 February 2014
                Date accepted : 23 February 2014
                Categories
                Subject: Case Report

                Keywords: ambiguous genitalia,46,xx testicular dsd,inverted duplication and xp terminal deletion(invdup del),rearrangement,array comparative genomic hybridization,fish
                Data availability:
                Keywords: ambiguous genitalia, 46, xx testicular dsd, inverted duplication and xp terminal deletion(invdup del), rearrangement, array comparative genomic hybridization, fish

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