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ey0018.2-7 | Neonatal hypoglycaemia | ESPEYB18

2.7. Possible new strategies for the treatment of congenital hyperinsulinism

J Sikimic , T Hoffmeister , A Gresch , J Kaiser , W Barthlen , C Wolke , I Wieland , U Lendeckel , P Krippeit-Drews , M Dufer , G Drews

Front Endocrinol (Lausanne). 2020 Oct 27;11:545638. doi: 10.3389/fendo.2020.545638. PMID: 33193079.Using human islets from CHI patients and islets from ABCC8 (SUR1) knockout mice, the authors tested several novel compounds to inhibit insulin over-secretion. These novel compounds targeted KATP channels as well as KATP indepe...

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ey0021.7-6 | Clinical Guidance and Studies | ESPEYB21

7.6. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels

L Montenegro , C Seraphim , F Tinano , M Piovesan , APM Canton , K McElreavey , S Brabant , NP Boris , M Magnuson , RS Carroll , UB Kaiser , J Argente , V Barrios , VN Brito , R Brauner , AC Latronico

Brief Summary: This cross-sectional study identifies two pathogenic variants in the Delta-like noncanonical notch ligand 1 ( DLK1 ) gene in a French cohort of 121 children with idiopathic central precocious puberty (CPP).DLK1 is a noncanonical ligand of the Delta Notch pathway known to be involved in adipocyte differentiation. Its hypothalamic expression suggests a potential role in coordinating reproductive and metabolic functions. Pathogenic v...

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ey0021.7-5 | Clinical Guidance and Studies | ESPEYB21

7.5. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

APM Canton , FR Tinano , L Guasti , LR Montenegro , F Ryan , D Shears , ME de Melo , LG Gomes , MP Piana , R Brauner , R Espino-Aguilar , A Escribano-Munoz , A Paganoni , JE Read , M Korbonits , CE Seraphim , SS Costa , AC Krepischi , AAL Jorge , A David , LR Kaisinger , KK Ong , JRB Perry , AP Abreu , UB Kaiser , J Argente , BB Mendonca , VN Brito , SR Howard , AC Latronico

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...

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ESPE Yearbook of Paediatric Endocrinology

2.7. Possible new strategies for the treatment of congenital hyperinsulinism

7.6. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels

7.5. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

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