背景:本研究报道了一例由ADGRG2基因的新型半合子突变引起的小阴茎,旨在扩大对ADGRG2基因突变所致性发育不良的认识。
方法:我们介绍了9月份收治的一名小阴茎患者的临床资料和基因检测结果,2022年,到同济医院。该患者是一名9岁10个月大的男性,其主要主诉是在三年内出现短阴茎。2016年4月,患者接受了棍状阴茎矫正手术。进入研究医院后,他的身高和体重分别为145.0厘米(75-90百分位数)和37.8公斤(50-75百分位数),分别,他的学士学位是12岁。他的身体特征包括正常的脸,双侧睾丸大小2毫升,阴茎长约3厘米。促性腺激素释放激素刺激试验显示下丘脑-垂体-性腺轴功能正常。HCG刺激试验表明睾丸中精子产生正常。辅助检查的关键异常包括低睾酮和高ACTH,硫酸脱氢表雄酮,雄烯二酮,和17-OH-P水平。基因检测揭示了一种新的半合子突变,ADGRG2基因内含子4的剪接突变(ChrX:19040187(NM_001079858.3):c.154+2T>A,继承自母亲。
结论:本研究报告了一例由ADGRG2基因新的半合子突变引起的小阴茎。这表明基因检测和基因指导治疗对改善预后的重要性。
BACKGROUND: This study reported a case of micropenis caused by a novel hemizygous mutation in the
ADGRG2 gene, which aimed to expand the understanding of sexual dysplasia caused by
ADGRG2 gene mutation.
METHODS: We present the clinical data and genetic test results of a patient with micropenis admitted in September, 2022, to the Tongji Hospital. The patient was a 9-year-10- month-old male whose chief complaint was the presence of a short penis over a period of three years. In April 2016, the patient underwent corrective surgery for a clubbed penis. Upon admission to the study hospital, his height and weight were 145.0 cm (75-90th percentile) and 37.8 kg (50-75th percentile), respectively, and his BA was 12 years old. His physical characteristics included a normal face, bilateral testicle size of 2 ml, and penile length of about 3 cm. A gonadotrophin-releasing hormone-stimulating test revealed normal hypothalamic-pituitary-gonadal axis function. An HCG stimulation test indicated normal sperm production in the testis. Key abnormalities from auxiliary examinations included low testosterone and high ACTH, dehydroepiandrosterone sulfate, androstenedione, and 17-OH-P levels. Genetic testing revealed a new hemizygous mutation, a splicing mutation in intron 4 of the
ADGRG2 gene (ChrX: 19040187 (NM_001079858.3): c.154 + 2T > A, inherited from the mother.
CONCLUSIONS: This study reported a case of micropenis caused by a new hemizygous mutation in the
ADGRG2 gene. This indicates the importance of genetic testing and gene-guided treatments to improve prognosis.