hrp0097p1-378 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Infant with 45, XO DSD presented with Li Fraumeni syndrome, a case report from Kuwait.

Alfadhli Maryam , Alhenaidi Razan , Elshafie Reem , Alkandari Hessa , Alhomaidah Doha

Background: X-chromosome monosomy is the most common sex abnormality in females, with a higher prevalence of cancer than the general population. Virilizing adrenocortical tumors are rarely seen in patients with Turner’s Syndrome. There have been 2 reported cases of simultaneous TP53 mutations (Li Fraumeni’s syndrome) and Turner’s syndrome. Here we report first case with this rare association from Kuwait.Clinical...