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Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma

We report a rare case of bilateral HCG-secreting gonadoblastomas (Gb) in a 5.25-year-old girl of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism. The clinical data were summarized, and the literatures were reviewed. The patient had enlarged breasts for 2 years and 3 months, with eleva...

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Autores principales: Zheng, Rujiang, Chen, Qiuli, Ma, Huamei, Liu, Juncheng, Chen, Huadong, Liang, Jianbo, Chen, Hongshan, Zhang, Jun, Li, Yanhong, Guo, Song, Wang, Bing, Du, Minlian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9722749/
https://www.ncbi.nlm.nih.gov/pubmed/36483467
http://dx.doi.org/10.3389/fped.2022.1042427
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author Zheng, Rujiang
Chen, Qiuli
Ma, Huamei
Liu, Juncheng
Chen, Huadong
Liang, Jianbo
Chen, Hongshan
Zhang, Jun
Li, Yanhong
Guo, Song
Wang, Bing
Du, Minlian
author_facet Zheng, Rujiang
Chen, Qiuli
Ma, Huamei
Liu, Juncheng
Chen, Huadong
Liang, Jianbo
Chen, Hongshan
Zhang, Jun
Li, Yanhong
Guo, Song
Wang, Bing
Du, Minlian
author_sort Zheng, Rujiang
collection PubMed
description We report a rare case of bilateral HCG-secreting gonadoblastomas (Gb) in a 5.25-year-old girl of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism. The clinical data were summarized, and the literatures were reviewed. The patient had enlarged breasts for 2 years and 3 months, with elevated β-HCG of blood found for 8 months. The level of β-HCG of cerebrospinal fluid, cranial MRI, chest and abdominal CT, and pelvic MRI were normal. After surgical gonad exploration, biopsy and excision, gonad venous blood hormone examination and SRY gene detection of gonad tissue, the diagnosis was confirmed as HCG-secreting Gb (bilateral) and TS (45, X) with gonad Y chromosome mosaicism. The patient received 4 courses of chemotherapy, and regular outpatient follow-up. At 9 months after gonadectomy, there was no clinical, laboratory, or radiological evidence of recurrence. We reported a nonclassical case of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism, who presented with breast development as the first manifestation and then virilization due to bilateral HCG-secreting gonadoblastomas. Detection of serum β-HCG and AFP is requisite for the diagnosis of precocious puberty, karyotyping is important for virilizing phenotypic female, and virilization in Turner syndrome implies the existence of Y chromosome(substance) (peripheral blood or tissue mosaicism) and the occurrence of gonadal tumors.
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spelling pubmed-97227492022-12-07 Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma Zheng, Rujiang Chen, Qiuli Ma, Huamei Liu, Juncheng Chen, Huadong Liang, Jianbo Chen, Hongshan Zhang, Jun Li, Yanhong Guo, Song Wang, Bing Du, Minlian Front Pediatr Pediatrics We report a rare case of bilateral HCG-secreting gonadoblastomas (Gb) in a 5.25-year-old girl of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism. The clinical data were summarized, and the literatures were reviewed. The patient had enlarged breasts for 2 years and 3 months, with elevated β-HCG of blood found for 8 months. The level of β-HCG of cerebrospinal fluid, cranial MRI, chest and abdominal CT, and pelvic MRI were normal. After surgical gonad exploration, biopsy and excision, gonad venous blood hormone examination and SRY gene detection of gonad tissue, the diagnosis was confirmed as HCG-secreting Gb (bilateral) and TS (45, X) with gonad Y chromosome mosaicism. The patient received 4 courses of chemotherapy, and regular outpatient follow-up. At 9 months after gonadectomy, there was no clinical, laboratory, or radiological evidence of recurrence. We reported a nonclassical case of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism, who presented with breast development as the first manifestation and then virilization due to bilateral HCG-secreting gonadoblastomas. Detection of serum β-HCG and AFP is requisite for the diagnosis of precocious puberty, karyotyping is important for virilizing phenotypic female, and virilization in Turner syndrome implies the existence of Y chromosome(substance) (peripheral blood or tissue mosaicism) and the occurrence of gonadal tumors. Frontiers Media S.A. 2022-11-22 /pmc/articles/PMC9722749/ /pubmed/36483467 http://dx.doi.org/10.3389/fped.2022.1042427 Text en © 2022 Zheng, Chen, Ma, Liu, Chen, Liang, Chen, Zhang, Li, Guo, Wang and Du. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) 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.
spellingShingle Pediatrics
Zheng, Rujiang
Chen, Qiuli
Ma, Huamei
Liu, Juncheng
Chen, Huadong
Liang, Jianbo
Chen, Hongshan
Zhang, Jun
Li, Yanhong
Guo, Song
Wang, Bing
Du, Minlian
Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma
title Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma
title_full Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma
title_fullStr Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma
title_full_unstemmed Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma
title_short Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma
title_sort gonadal y-chromosome mosaicism with 45, x turner syndrome complicated with bilateral hcg-secreting gonadoblastoma
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9722749/
https://www.ncbi.nlm.nih.gov/pubmed/36483467
http://dx.doi.org/10.3389/fped.2022.1042427
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