ea0081p439 | Reproductive and Developmental Endocrinology | ECE2022
Sun Bang
, Wang Xi
, Mao Jiangfeng
, Wu Xueyan
, Nie Min
Background: 46, XX testicular disorder of sex development (DSD) and 11β-hydroxylase deficiency (11β-OHD) are two extremely rare types of disorder of sex development. No coexistence has been reported yet.Case Description: Here we reported the first patient diagnosed as the coexistence of 11β-OHD and 46, XX testicular DSD basing on clinical, biochemical, molecular, cytogenetic, and functional experiment findings. A 22-year-old male showed sm...