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Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review

Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially. The results of his laboratory tests,...

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Autores principales: Zhang, Yiwen, Dong, Bingzi, Xue, Yu, Wang, Yunyang, Yan, Jing, Xu, Lili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020625/
https://www.ncbi.nlm.nih.gov/pubmed/36936162
http://dx.doi.org/10.3389/fendo.2023.1133492
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author Zhang, Yiwen
Dong, Bingzi
Xue, Yu
Wang, Yunyang
Yan, Jing
Xu, Lili
author_facet Zhang, Yiwen
Dong, Bingzi
Xue, Yu
Wang, Yunyang
Yan, Jing
Xu, Lili
author_sort Zhang, Yiwen
collection PubMed
description Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially. The results of his laboratory tests, imaging, and genetic testing, however, combined to provide a conclusive diagnosis of Culler-Jones syndrome. With the aid of high-throughput sequencing technology, the GLI2 gene c.527A>G (p.Tyr176Cys) heterozygous mutation in the child was identified. No published works have yet described this mutation site. We described Culler-Jones syndrome in a child at length. We recommend that Culler-Jones syndrome be taken into account when considering the spectrum of disorders associated with abnormal growth and development in children. Once diagnosed, individualized hormone replacement treatment is required for each patient.
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spelling pubmed-100206252023-03-18 Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review Zhang, Yiwen Dong, Bingzi Xue, Yu Wang, Yunyang Yan, Jing Xu, Lili Front Endocrinol (Lausanne) Endocrinology Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially. The results of his laboratory tests, imaging, and genetic testing, however, combined to provide a conclusive diagnosis of Culler-Jones syndrome. With the aid of high-throughput sequencing technology, the GLI2 gene c.527A>G (p.Tyr176Cys) heterozygous mutation in the child was identified. No published works have yet described this mutation site. We described Culler-Jones syndrome in a child at length. We recommend that Culler-Jones syndrome be taken into account when considering the spectrum of disorders associated with abnormal growth and development in children. Once diagnosed, individualized hormone replacement treatment is required for each patient. Frontiers Media S.A. 2023-03-03 /pmc/articles/PMC10020625/ /pubmed/36936162 http://dx.doi.org/10.3389/fendo.2023.1133492 Text en Copyright © 2023 Zhang, Dong, Xue, Wang, Yan and Xu 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). 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 Endocrinology
Zhang, Yiwen
Dong, Bingzi
Xue, Yu
Wang, Yunyang
Yan, Jing
Xu, Lili
Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
title Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
title_full Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
title_fullStr Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
title_full_unstemmed Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
title_short Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
title_sort case report: a case of culler-jones syndrome caused by a novel mutation of gli2 gene and literature review
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020625/
https://www.ncbi.nlm.nih.gov/pubmed/36936162
http://dx.doi.org/10.3389/fendo.2023.1133492
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