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A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature

Background: Disorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal de...

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Autores principales: Aversa, Tommaso, Luppino, Giovanni, Corica, Domenico, Pepe, Giorgia, Valenzise, Mariella, Coco, Roberto, Li Pomi, Alessandra, Wasniewska, Malgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454567/
https://www.ncbi.nlm.nih.gov/pubmed/37628683
http://dx.doi.org/10.3390/genes14081631
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author Aversa, Tommaso
Luppino, Giovanni
Corica, Domenico
Pepe, Giorgia
Valenzise, Mariella
Coco, Roberto
Li Pomi, Alessandra
Wasniewska, Malgorzata
author_facet Aversa, Tommaso
Luppino, Giovanni
Corica, Domenico
Pepe, Giorgia
Valenzise, Mariella
Coco, Roberto
Li Pomi, Alessandra
Wasniewska, Malgorzata
author_sort Aversa, Tommaso
collection PubMed
description Background: Disorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Case Description: A child with a history of micropenis and cryptorchidism. At 8 years of age, he came under our observation for an increase in sexual pubic hair (pubarche). The laboratory parameters and the GnRH test suggested a central precocious puberty (CPP). Treatment with GnRH analogs was started, and we decided to perform genetic tests for DSD. The NGS genetic investigation showed a novel and heterozygous variant in the GATA-4 gene. Discussion: In the literature, 26 cases with 46,XY DSD due to the GATA4 gene were reported. Conclusion: The novel variant in the GATA-4 gene of our patient was not previously associated with DSD. This is the first case of a DSD due to a GATA-4 mutation that develops precocious puberty. Precocious puberty could be associated with DSD and considered a prelude to hypogonadism in some cases.
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spelling pubmed-104545672023-08-26 A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature Aversa, Tommaso Luppino, Giovanni Corica, Domenico Pepe, Giorgia Valenzise, Mariella Coco, Roberto Li Pomi, Alessandra Wasniewska, Malgorzata Genes (Basel) Case Report Background: Disorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Case Description: A child with a history of micropenis and cryptorchidism. At 8 years of age, he came under our observation for an increase in sexual pubic hair (pubarche). The laboratory parameters and the GnRH test suggested a central precocious puberty (CPP). Treatment with GnRH analogs was started, and we decided to perform genetic tests for DSD. The NGS genetic investigation showed a novel and heterozygous variant in the GATA-4 gene. Discussion: In the literature, 26 cases with 46,XY DSD due to the GATA4 gene were reported. Conclusion: The novel variant in the GATA-4 gene of our patient was not previously associated with DSD. This is the first case of a DSD due to a GATA-4 mutation that develops precocious puberty. Precocious puberty could be associated with DSD and considered a prelude to hypogonadism in some cases. MDPI 2023-08-16 /pmc/articles/PMC10454567/ /pubmed/37628683 http://dx.doi.org/10.3390/genes14081631 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Aversa, Tommaso
Luppino, Giovanni
Corica, Domenico
Pepe, Giorgia
Valenzise, Mariella
Coco, Roberto
Li Pomi, Alessandra
Wasniewska, Malgorzata
A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature
title A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature
title_full A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature
title_fullStr A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature
title_full_unstemmed A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature
title_short A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature
title_sort rare case of precocious puberty in a child with a novel gata-4 gene mutation: implications for disorders of sex development (dsd) and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454567/
https://www.ncbi.nlm.nih.gov/pubmed/37628683
http://dx.doi.org/10.3390/genes14081631
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