一例罕见的性早熟儿童伴新型基因突变：对性发育障碍（DSD）的影响及文献复习。
A Rare Case of Precocious Puberty in a Child with a Novel Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature.
机构信息
Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Pediatric Unit, AOU Policlinico G. Martino, Via Consolare Valeria 1, 98125 Messina, Italy.
出版信息
Genes (Basel). 2023 Aug 16;14(8):1631. doi: 10.3390/genes14081631.
BACKGROUND
Disorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The 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 gene.
DISCUSSION
In the literature, 26 cases with 46,XY DSD due to the gene were reported.
CONCLUSION
The novel variant in the gene of our patient was not previously associated with DSD. This is the first case of a DSD due to a mutation that develops precocious puberty. Precocious puberty could be associated with DSD and considered a prelude to hypogonadism in some cases.
背景
性发育障碍/差异（DSD）通常是由于调节性腺发育的遗传程序紊乱引起的。该基因位于染色体 8p23.1 上，编码 GATA 结合蛋白 4（GATA-4），这是一种转录因子，对于心脏和性腺发育和性分化至关重要。
病例描述
一名有小阴茎和隐睾病史的儿童。他 8 岁时，因阴毛早现（pubarche）而进入我们的观察范围。实验室参数和 GnRH 测试提示中枢性性早熟（CPP）。开始使用 GnRH 类似物治疗，我们决定进行 DSD 的基因检测。NGS 基因研究显示该基因存在一种新的杂合变异。
讨论
文献中报道了 26 例 46,XY DSD 是由于 基因引起的。
结论
我们患者的 基因中的新型变异以前与 DSD 无关。这是首例由于 基因突变导致性早熟的 DSD 病例。性早熟可能与 DSD 相关，并在某些情况下被认为是性腺功能减退的前奏。
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