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      Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome

      case-report

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          Abstract

          Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. We present a case of a 14-year-old adolescent with short stature and delayed puberty, who was admitted in a Paediatric Endocrinology outpatient clinic. After a careful investigation, he was found to have a 45,X/46,X,idic(Y)(p11.32) mosaicism. This case report emphasizes the wide range of etiologies that can be involved in short stature and that chromosomal study is an important tool when firstly approaching males with short stature, avoiding unnecessary tests. There is an important clinical need for gonadal follow-up in this situation and for support in the decision about sex of rearing and sex orientation, when justifiable.

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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.
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            Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.

            , Stenvert Drop, H Stoop … (2011)
            Gonadectomy is avoided whenever possible in boys with 45,X/46,XY. However, no clinical markers are currently available to guide clinicians in predicting gonadal tumor risk or hormone production. The objective of the study was to test the hypothesis that gonadal histology and risk for development of a malignant germ cell tumor are reflected by the clinical presentation of a 45,X/46,XY individual. The design of the study was the correlation of clinical data [external masculinization score (EMS), pubertal outcome] with pathology data (gonadal phenotype, tumor risk). This was a multicenter study involving two multidisciplinary disorder of sex development teams. Patients included genetically proven 45,X/46,XY (and variants) cases, of whom at least one gonadal biopsy or gonadectomy specimen was available, together with clinical details. Patients (n = 48) were divided into three groups, based on the EMS. Gonadal histology and tumor risk were assessed on paraffin-embedded samples (n = 87) by morphology and immunohistochemistry on the basis of established criteria. Gonadal differentiation and tumor risk in the three clinical groups were measured. Clinical outcome in patients with at least one preserved gonad was also measured. Tumor risk in the three groups was significantly related to the gonadal differentiation pattern (P < 0.001). In boys, hormone production was sufficient and was not predicted by the EMS. The EMS reflects gonadal differentiation and tumor risk in patients with 45,X/46,XY. In boys, testosterone production is often sufficient, but strict follow-up is warranted because of malignancy risk, which appears inversely related to EMS. In girls, tumor risk is limited but gonads are not functional, making gonadectomy the most reasonable option.
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              Current Concepts in Disorders of Sexual Development

              Gönül Öçal (2011)
              Disorders of sex development (DSD) with or without ambiguous genitalia require medical attention to reach a definite diagnosis. Advances in identification of molecular causes of abnormal sex, heightened awareness of ethical issues and this necessitated a re-evaluation of nomenclature. The term DSD was proposed for congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In general, factors influencing sex determination are transcriptional regulators, whereas factors important for sex differentiation are secreted hormones and their receptors.The current intense debate on the management of patients with intersexuality and related conditions focus on four major issues: 1) aetiological diagnosis, 2) assignment of gender, 3) indication for and timing of genital surgery, 4) the disclosure of medical information to the patient and his/her parents. The psychological and social implications of gender assignment require a multidisciplinary approach and a team which includes ageneticist, neonatologist, endocrinologist, gynaecologist, psychiatrist, surgeon and a social worker. Each patient should be evaluated individually by multidisciplinary approach. Conflict of interest:None declared.
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                Author and article information

                Contributors
                Catarina Silvestre:
                ORCID: http://orcid.org/0000-0001-9497-8613
                Journal
                Journal ID (nlm-ta): Case Rep Pediatr
                Journal ID (iso-abbrev): Case Rep Pediatr
                Journal ID (publisher-id): CRIPE
                Title: Case Reports in Pediatrics
                Publisher: Hindawi
                ISSN (Print): 2090-6803
                ISSN (Electronic): 2090-6811
                Publication date Collection: 2019
                Publication date (Electronic): 14 April 2019
                Volume: 2019
                Electronic Location Identifier: 8563095
                Affiliations
                1Department of Endocrinology, Diabetes and Metabolism, Santa Maria Hospital, Lisbon, Portugal
                2Department of Human Genetics, Santa Maria Hospital, Lisbon, Portugal
                3Pediatric Endocrinology Unit from Department of Pediatrics, Santa Maria Hospital, Lisbon, Portugal
                Author notes

                Academic Editor: Yann-Jinn Lee

                Author information
                http://orcid.org/0000-0001-9497-8613
                Article
                DOI: 10.1155/2019/8563095
                PMC ID: 6487124
                PubMed ID: 31110831
                SO-VID: b1093ae5-d593-41ca-a854-ae637c08ce99
                Copyright © Copyright © 2019 Catarina Silvestre 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 : 15 November 2018
                Date revision received : 27 February 2019
                Date accepted : 7 March 2019
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Pediatrics
                Data availability:
                ScienceOpen disciplines: Pediatrics

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