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hrp0086p1-p558 | Perinatal Endocrinology P1 | ESPE2016

Cerebral Outcome of Children with Congenital Hyperinsulism

Rasmussen Annett Helleskov , Melikian Maria , Portner Fani , Larsen Anna-marie , Scherderkina Inna , Globa E , Filipsen Karen , Brusgaard Klaus , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare condition characterized by unregulated secretion of insulin from pancreatic islet β cells. The primary treatment goal is to obtain normoglycemia, since hypoglycemia in the neonatal period can have severe impact on cerebral development.Objective and hypotheses: To assess the cerebral function in children with CHI at follow up.Method: From an international cohort, 40 childre...

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hrp0097p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Gonadal histopathology in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers L.S. , Brüggenwirth H.T. , van Bever Y. , Hersmus R. , Bryce J. , Ahmed S.F. , Lucas-Herald A.K. , Baronio F. , Cools M. , Ellaithi M. , Globa E. , Güran T. , Hiort O. , Holterhus P.M. , MсElreavey K. , Niedziela M. , Stancampiano M.R. , Tosun B.G. , Wolffenbuttel K.P. , Oosterhuis J.W. , Looijenga L.H.J. , Hannema S.E.

Introduction: In various forms of XY disorders/differences of sex development (DSD) the risk of germ cell cancer is increased. In the 2006 DSD consensus statement this risk was estimated to be intermediate in 17beta-HSDtype3 deficiency (HSD17B3D) and low in 5alpha-reductasetype2 deficiency (SRD5A2D) but based on very few cases. Few studies have been performed since; therefore we aimed to review gonadal pathology in an international cohort with these conditions...

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ESPE Abstracts

Cerebral Outcome of Children with Congenital Hyperinsulism

Gonadal histopathology in 17beta-HSD deficiency and 5alpha-reductase deficiency

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