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CASE REPORT article

Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 12 - 2024 | doi: 10.3389/fped.2024.1460174

45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

Provisionally accepted
Qiang Zhang Qiang Zhang 1Xiaoxiao Chen Xiaoxiao Chen 2*Yanyan Cao Yanyan Cao 2Yun Zhou Yun Zhou 2*Yingye Liu Yingye Liu 2Lijun Liu Lijun Liu 2*Lei Liu Lei Liu 2*Xiaowei Cui Xiaowei Cui 2*
  • 1 河北省儿童医院, 石家庄, China
  • 2 Children’s Hospital of Hebei Province, Shijiazhuang, China

The final, formatted version of the article will be published soon.

    Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone. He had a history of mixed gonadal dysgenesis (hypospadias, bilateral cryptorchidism, processus vaginalis and dysplastic immature uterus) and series of corrective surgeries. At 14 months of age, chromosomal karyotyping revealed 46,X,+mar. Upon presentation, lab testing was consistent with the male phenotype at prepuberty. Fluorescence in situ hybridization revealed 45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)(SRY++,DYZ3++)[38] karyotype. A literature review identified 8 case reports of mixed gonadal dysgenesis associated with 45,X/46,X,idic(Y)(q11.2). Neither sex phenotype nor short stature correlated with the 46,X,idic(Y)(q11.2) mosaic ratio.

    Keywords: Isodicentric Y chromosome, Mosaicism, Yq11.2 breaks, Mixed gonadal dysgenesis, Karyotyping, fluorescence in situ hybridization (FISH)

    Received: 05 Jul 2024; Accepted: 26 Sep 2024.

    Copyright: © 2024 Zhang, Chen, Cao, Zhou, Liu, Liu, Liu and Cui. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Xiaoxiao Chen, Children’s Hospital of Hebei Province, Shijiazhuang, China
    Yun Zhou, Children’s Hospital of Hebei Province, Shijiazhuang, China
    Lijun Liu, Children’s Hospital of Hebei Province, Shijiazhuang, China
    Lei Liu, Children’s Hospital of Hebei Province, Shijiazhuang, China
    Xiaowei Cui, Children’s Hospital of Hebei Province, Shijiazhuang, China

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