ISSN 1662-4009 (online)

ey0021.6-4 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.4. Microdeletion at ESR1 intron 6 (DEL_6_75504) is a susceptibility factor for cryptorchidism and hypospadias

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...