case_images: PMC7545356_01
case_images: PMC7545356_02
case_images: PMC7545356_03
case_images: PMC7545356_04
case_images: PMC7545356_05
case_images: PMC7545356_06
case_images: Timetable describing the sequence of the diagnostic and therapeutic interventions undertaken for the proband.
case_images: fendo-11-540683-g0001.jpg
case_images: PMC7545356_06_fendo-11-540683-g0001.jpg
case_images: F1
case_images: Figure 1 represents the timeline of all diagnostic and therapeutic interventions performed for the proband.
case_images: Proband's last pelvic ultrasound, performed at the end of the pubertal induction. Ovaries were not detected due to ovarian dysgenesis. The uterus has reached a mature post-pubertal shape and volume (9.5 mL). Endometrial thickness: 4 mm (secretive phase).
case_images: fendo-11-540683-g0002.jpg
case_images: PMC7545356_06_fendo-11-540683-g0002.jpg
case_images: F2
case_images: Figure 2 represents the pictures captured from the most recently performed pelvic US.
case_images: PMC7545356_07
case_images: PMC7545356_08
case_images: Proband's NGS profiles (right) and sequence (left) of FIGLA, NOBOX, and NR5A1 genes. The identified variants c.364del (A), c.1626del (B), and c.1063G>A (C) are indicated.
case_images: fendo-11-540683-g0003.jpg
case_images: PMC7545356_08_fendo-11-540683-g0003.jpg
case_images: F3
case_images: Figure 3 represents the results relative to the NGS profile detected.