Next generation sequencing identifies a novel variant in the NR5A1 gene in a 46,XY female with complete gonadal dysgenesis

To report a novel variant in the NR5A1 gene as a cause of 46,XY complete gonadal dysgenesis (Swyer syndrome). A 12.5-year-old prepubertal girl presented with the complaint of short stature and was evaluated in our clinic after pelvic ultrasonography revealed an absent uterus and ovaries. In pubertal examination, she was at Tanner stage I, had a fully female phenotype, and no clitoromegaly. Gonads were not palpable on examination. Laboratory investigations, including hemogram and biochemical tests, were normal. Celiac antibodies were negative, and thyroid function tests were within normal limits. Patient’s serum LH level was 11.7 mIU/mL, FSH 81.3 mIU/mL, estradiol