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

      , , , , , , , 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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          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.


          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.


          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.


          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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                Author and article information

                +86 18926488907 , Su_zhe@126.com
                BMC Pediatr
                BMC Pediatr
                BMC Pediatrics
                BioMed Central (London )
                6 May 2019
                6 May 2019
                : 19
                : 143
                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
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                © 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.

                : 26 January 2019
                : 24 April 2019
                Research Article
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                © The Author(s) 2019

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


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