<b>Case Report:</b> Whole exome sequencing revealed an extremely rare homozygous nonsense mutation in exon 2 of the <i>HSD3B2</i> gene, leading to a premature stop codon (NM_000198.3: c.15C>A, p.Cys5Ter) in a patient with AAD and premature ovarian insufficiency. This evidence concerns the gene HSD3B2 and premature menopause.