PMC7545356_01
PMC7545356_02
PMC7545356_03
PMC7545356_04
PMC7545356_05
PMC7545356_06
Timetable describing the sequence of the diagnostic and therapeutic interventions undertaken for the proband.
fendo-11-540683-g0001.jpg
PMC7545356_06_fendo-11-540683-g0001.jpg
F1
Figure 1 represents the timeline of all diagnostic and therapeutic interventions performed for the proband.
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).
fendo-11-540683-g0002.jpg
PMC7545356_06_fendo-11-540683-g0002.jpg
F2
Figure 2 represents the pictures captured from the most recently performed pelvic US.
PMC7545356_07
PMC7545356_08
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.
fendo-11-540683-g0003.jpg
PMC7545356_08_fendo-11-540683-g0003.jpg
F3
Figure 3 represents the results relative to the NGS profile detected.