A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development.
A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development.
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DOI：
10.1210/jcemcr/luad103
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发表时间：
2023-09
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性别发育差异（dsd）是一系列先天性临床疾病，涉及性腺、染色体和解剖性别的发育。物理表现提供了不完整的线索，因为潜在的病因可能会出现类似的结果。我们描述了一个来自多米尼加共和国的8岁男孩，最初被诊断为先天性肾上腺增生（CAH）。给他开了口服氢化可的松和氟化可的松，但依从性不规律。在婴儿期，他接受了人绒毛膜促性腺激素注射，以刺激阴茎生长。移民美国后，药物耗尽，但没有肾上腺危机。实验室测试与高剂量促肾上腺皮质激素刺激研究排除了CAH。仔细检查发现一个发育不全的双阴囊，双侧睾丸未降，一个2厘米的阴茎，严重的阴囊尿道下裂和脊索。随后，他接受了2期双侧睾丸切除术，并手术修复了阴囊尿道下裂和脊索。对46，xy DSD的基因检测显示，在NR5A1基因中存在一种新的、显性的、杂合的、可能致病的变异（C .102 + 1G > C），与弱雄男性的严重表型相关。该病例说明了分子基因检测在诊断46，xy dsd和一种新型NR5A1基因变异中的关键作用。
Differences of sex development (DSDs) are a spectrum of congenital clinical conditions involving the development of gonadal, chromosomal, and anatomical sex. The physical presentation provides incomplete clues because underlying etiologies may present with similar findings. We describe an 8-year-old boy from the Dominican Republic originally diagnosed with congenital adrenal hyperplasia (CAH). He was prescribed oral hydrocortisone and fludrocortisone, with irregular adherence. During infancy, he had human chorionic gonadotropin injections to stimulate phallic growth. After migrating to the United States, medications became depleted but without adrenal crisis. Laboratory testing with high-dose adrenocorticotropin stimulation study ruled out CAH. Careful examination noted an underdeveloped bifid scrotum, bilaterally undescended testicles, a 2-cm phallus, severe penoscrotal hypospadias, and chordee. Subsequently, he had a 2-stage bilateral orchiopexy and surgical repair of penoscrotal hypospadias and chordee. Genetic testing for 46,XY DSD revealed a novel, dominant, heterozygous, likely pathogenic variant (c.102 + 1G > C) in the NR5A1 gene associated with severe phenotype of undervirilized male. This case illustrates the crucial role of molecular genetic testing for the diagnosis of 46,XY DSDs and a novel NR5A1 gene variant.