Abstract Background: NR5A1 plays a critical role in sex differentiation and adrenal development. As a transcription factor, it regulates multiple genes involved in reproductive and endocrine processes. Mutations in NR5A1 are commonly associated with disorders of sex development and adrenal insufficiency, and most reported variants are located in coding regions. Methods: A de novo NR5A1 c.−16 + 1G > A mutation was identified in a 2-year-old patient who was gender-ambiguous.
