Bibliographic Details
| 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. |
| Authors: |
Aversa, Tommaso, Luppino, Giovanni, Corica, Domenico, Pepe, Giorgia, Valenzise, Mariella, Coco, Roberto, Li Pomi, Alessandra, Wasniewska, Malgorzata |
| Source: |
Genes; Aug2023, Vol. 14 Issue 8, p1631, 8p |
| Subject Terms: |
PRECOCIOUS puberty, SEX differentiation disorders, GENETIC mutation, GENETIC variation, SEX differentiation (Embryology) |
| Abstract: |
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. [ABSTRACT FROM AUTHOR] |
|
Copyright of Genes is the property of MDPI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Complementary Index |
