Fig. 1

Clinical features of the case 1 (III-1). a. B-ultrasound analysis of the case’s internal reproductive organs showed the absence of a uterus and ovaries, but testes on the left labia and right groin. b. Karyotype analysis revealed that the case’s karyotype was 46,XY. c. Pedigree of the case’s family; Males, females and the patient are indicated by squares, circles, filled circle, respectively. the case 1 (III-1) and her sister (case 2, III-2) were 46,XY DSD patients, while the other relatives did not suffer from 46,XY DSD. d. Sequencing analysis of the SRD5A2 gene. The heterozygous mutation 16C > T found in the patient lead to a stop codon. e. Sequencing analysis of the SRD5A2 gene. The heterozygous mutation 695A > G was found, causing amino acid 232 to change from histidine to arginine. Red arrows indicate mutated nucleotide