hrp0095rfc1.4 | Thyroid | ESPE2022

Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction in pregnancy

Zohar Steinberg Ben-Zeev , Marina Peniakov , Clari Felszer , Scott A Weiner , Avishay Lahad , Shlomo Almashanu , Yardena Tenenbaum-Rakover

Introduction: Maternal thyroid disease is considered as a risk factor for abnormal thyroid function at birth as well as for long-term morbidity in offspring. The potential harmful effects on the neonate had led to the clinical practice of thyroid function assessment in infants born to mothers with thyroid disease during pregnancy, despite well-established newborn screening programs with include congenital hypothyroidism screening. We evaluated the usefulness o...

hrp0089p2-p110 | Diabetes & Insulin P2 | ESPE2018

Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

London Shira , Elias-Assad Ghadir , Barhoum Marie Noufi , Felszer Clari , Paniakov Marina , Vainer Scott , Flanagan Sarah , Houghton Jayne , Rakover Yardena Tenenbaum

Background: GLIS3 is a transcription factor involved in the development of pancreatic β-cells, the thyroid, eyes, liver and kidneys. In the pancreas, GLIS3 is expressed at various stages of ductal and endocrine cell development, and is a critical regulator of β-cell development and insulin expression. Mutations in GLIS3 have been recently described as a rare cause of neonatal diabetes and congenital hypothyroidism (CH), reported in only 20 ...