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      Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

      research-article
      , , , , , , , on behalf of the multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital
      BMC Pediatrics
      BioMed Central
      45,X/46,XY mosaicism, Growth, Gonadoblastoma, Gonadal dysgenesis

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          Abstract

          Background

          The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.

          Methods

          We conducted a retrospective review of the records of 32 patients with 45,X/46,XY mosaicism or variants who were hospitalized from August 2005 to September 2018. The main outcomes measured were growth data, genital phenotype, gonadal function, gonadal position, and histological results.

          Results

          A total of 32 patients were included. The age at diagnosis ranged from 0.6 to 16.3 years. Nineteen patients exhibited ambiguous genitalia, 12 had short stature, and 1 showed a lack of breast development. Seventeen patients were raised as males, and 15 were raised as females. The external masculinisation score (EMS) of patients raised as male was 4.5 (1~12) [median (range)]. The EMS of the females was 0 (0~1.5) [median (range)]. Patients showed normal heights under 2 years old, with a height SDS of 0 (− 1.5~1.4) [median (range)]. Growth appeared to decelerate after age 2 years, with SDS decreased to − 2.8 (− 3.0~ − 0.9) [median (range)]. The percentage of short stature was higher in females than in males (76.9% vs 50.0%). Twenty-five patients had gonadal pathological results. Complete gonadal dysgenesis (CGD) and mixed gonadal dysgenesis (MGD) were the most common pathogenic subtypes, accounting for 48.0 and 36.0%, respectively. Ovotesticular tissue was observed in only 4.0% of patients. Gonadoblastoma and positive OCT3/4 results were found in 18.8% of gonads in children over 2 years of age. Palpable gonads accounted for 50% of these. All patients who had gonadoblastoma were raised as females.

          Conclusions

          Patients with 45,X/46,XY might have normal heights until 2 years old.

          Growth decelerations after 2 years of age were common. Patients who are being raised as females seemed to be shorter than males. CGD and MGD were the most common gonadal pathogenic subtypes. The tumour risk is high in these patients, even in palpable gonads and female patients.

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          Most cited references26

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          Consensus statement on management of intersex disorders.

          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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            Primary ovarian insufficiency: a more accurate term for premature ovarian failure.

            Premature ovarian failure (POF) is a disorder with a complicated clinical presentation and course that is poorly defined by its name. A more scientifically accurate term for the disorder is primary ovarian insufficiency (POI), a term that can be appropriately modified to describe the state of ovarian function. In recent years, the known aetiologies of POI have expanded, although the cause of POI in a majority of clinical cases remains undefined. The most common aetiologies should be ruled out clinically including chromosomal abnormalities, fragile X premutations and autoimmune causes. Management should be directed at symptom resolution and bone protection, but most importantly should include psychosocial support for women facing this devastating diagnosis.
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              The role of a clinical score in the assessment of ambiguous genitalia.

              To improve the initial assessment of ambiguous genitalia in infants. Using a specially devised scoring system, the external genitalia (external masculinization score, EMS, range 0-12) and internal reproductive structures (internal masculinization score, IMS, range 0-10) were assessed in 426 male newborns and 291 cases of ambiguous genitalia. In normal male newborns, the median (10th centile) EMS was 11 (10). In the affected infants, the sex of rearing was male in 202 and female in 89 cases, respectively. The median (10-90th centile) EMS in those cases reared male, at 3.5 (2-8), was significantly higher than in cases reared as females, at 2 (1-6) (P < 0.001). The median IMS in cases reared as males and females was the same, at 10, but the scatter of values was higher for males (10-90th centile, 4-10) than for females (0-10) (P = 0.01). Infants reared as females were more likely to have a micropenis, a uterus and/or a urogenital sinus, but there were 12 cases where the sex of rearing was male despite the presence of a uterus; five infants without micropenis were reared as female and 23 with a urogenital sinus were reared as male. The masculinization score provides a standardized format to summarize clinical features in newborn infants with ambiguous genitalia. Gender assignment does not solely depend on the appearance of the external genitalia and the nature of internal sexual organs.
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                Author and article information

                Contributors
                panlilier@163.com
                +86 18926488907 , Su_zhe@126.com
                jamie898@163.com
                13510332826@163.com
                1136886046@qq.com
                zlj8989@126.com
                lishoulin@126.com
                Journal
                BMC Pediatr
                BMC Pediatr
                BMC Pediatrics
                BioMed Central (London )
                1471-2431
                6 May 2019
                6 May 2019
                2019
                : 19
                : 143
                Affiliations
                ISNI 0000 0004 1806 5224, GRID grid.452787.b, Director of Endocrinology department, , Shenzhen Children’s Hospital, ; No. 7019, Yitian Road, Shenzhen, 518038 Guangdong Province People’s Republic of China
                Author information
                http://orcid.org/0000-0003-4101-8429
                Article
                1520
                10.1186/s12887-019-1520-9
                6501323
                31060547
                e3dcf47d-36d8-4f3d-b1f5-72f9ce34f667
                © The Author(s). 2019

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 26 January 2019
                : 24 April 2019
                Categories
                Research Article
                Custom metadata
                © The Author(s) 2019

                Pediatrics
                45,x/46,xy mosaicism,growth,gonadoblastoma,gonadal dysgenesis
                Pediatrics
                45,x/46,xy mosaicism, growth, gonadoblastoma, gonadal dysgenesis

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