小阴茎
性发育障碍
性早熟
关贸总协定
性腺发育
生物
第二性征
基因
遗传学
突变
性腺
性别分化
中枢性早熟
关贸总协定
转录因子
内分泌学
激素
尿道下裂
作者
Tommaso Aversa,Giovanni Luppino,Domenico Corica,Giorgia Pepe,Mariella Valenzise,Roberto Coco,Alessandra Li Pomi,Małgorzata Waśniewska
出处
期刊:Genes
[MDPI AG]
日期:2023-08-16
卷期号:14 (8): 1631-1631
被引量:4
标识
DOI:10.3390/genes14081631
摘要
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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