ISSN 1662-4009 (online)

ey0020.1-3 | Antenatal and Perinatal Thyroidology | ESPEYB20

1.3. Incidence of and risk factors for neonatal hypothyroidism among women with Graves' disease treated with antithyroid drugs until delivery

A Yoshihara , JY Noh , K Inoue , N Watanabe , M Fukushita , M Matsumoto , N Suzuki , A Suzuki , A Kinoshita , R Yoshimura , A Aida , H Imai , S Hiruma , K Sugino , K Ito

Brief summary: Neonates of mothers suffering from Graves’ Disease during pregnancy are at risk for hyper- or hypothyroidism postnatally. The risk for hypothyroidism of neonates exposed to maternal anti-thyroid drugs until birth is unknown. This large retrospective study aimed at investigating 1) the incidence of hypothyroid neonates in a large cohort of mothers treated with anti-thyroid drugs until birth, and 2) identify a cutoff for maternal anti-thyroid drug doses assoc...

ey0017.6-7 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

K Hamanaka , A Takata , Y Uchiyama , S Miyatake , N Miyake , S Mitsuhashi , K Iwama , A Fujita , E Imagawa , AN Alkanaq , E Koshimizu , Y Azuma , M Nakashima , T Mizuguchi , H Saitsu , Y Wada , S Minami , Y Katoh-Fukui , Y Masunaga , M Fukami , T Hasegawa , T Ogata , N Matsumoto

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...