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ey0017.4-3 | Important for clinical practice | ESPEYB17

4.3. IGF2 Mutations

Y Masunaga , T Inoue , K Yamoto , Y Fujisawa , Y Sato , Y Kawashima-Sonoyama , N Morisada , K Iijima , Y Ohata , N Namba , H Suzumura , R Kuribayashi , Y Yamaguchi , H Yoshihashi , M Fukami , H Saitsu , M Kagami , T Ogata

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...

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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...

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ESPE Yearbook of Paediatric Endocrinology

4.3. IGF2 Mutations

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

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