Abstract Search

ey0021.1-12 | New Treatments and Hopes | ESPEYB21

1.12. Insights into central congenital hypothyroidism: A multicenter retrospective analysis

A German , S Almashanu , Vries L de , Margolis M Gil , R Halloun , A Haim , O Eyal , F Levy-Khademi , D Pivko-Levy , J Nir , O Pinhas-Hamiel , Y Tenenbaum-Rakover

Brief Summary: This multicentre retrospective cross-sectional study provides critical insights into the epidemiology, clinical presentation, and neurodevelopmental outcomes of central congenital hypothyroidism (CCH).CCH is a rare disorder that occurs due to insufficient hypothalamic-pituitary stimulation of the thyroid, characterized by low total T4 (TT4) with either low, normal or slightly elevated TSH. Most newborn screening (NBS) programs for CH are p...

0 shares

ey0017.8-10 | New Hope | ESPEYB17

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

N Pode-Shakked , A Blau , B Pode-Shakked , D Tiosano , N Weintrob , O Eyal , A Zung , F Levy-Khademi , Y Tenenbaum-Rakover , D Zangen , D Gillis , O Pinhas-Hamiel , N Loewenthal , L de Vries , Z Landau , M Rachmiel , A Abu-Libdeh , A Eliakim , D Strich , I Koren , A German , J Sack , S Almashanu

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 31723180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

0 shares

ESPE Yearbook of Paediatric Endocrinology

1.12. Insights into central congenital hypothyroidism: A multicenter retrospective analysis

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

BiosciAbstracts