ey0021.6-4 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21
Y Masunaga
, Y Fujisawa
, F Massart
, C Spinelli
, Y Kojima
, K Mizuno
, Y Hayashi
, I Sasagawa
, R Yoshida
, F Kato
, M Fukami
, N Kamatani
, H Saitsu
, T Ogata
Brief Summary: This translational study identifies a new susceptibility region within the estrogen receptor α ( ESR1 ) gene, linked to cryptorchidism (CO) and hypospadias (HS), the most common birth defects of the male genital tract. CO occurs in approximately 1:100 male births and is 3-times more common in premature infants, while HS affects about 1:300 male births. The prevalence of both conditions has increased over the years, with premature infants showing hi...