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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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ey0018.7-2 | Clinical Guidance | ESPEYB18

7.2. Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations

CE Seraphim , APM Canton , L Montenegro , MR Piovesan , DB Macedo , M Cunha , A Guimaraes , CO Ramos , AFF Benedetti , A de Castro Leal , PC Gagliardi , SR Antonini , M Gryngarten , AJ Arcari , AP Abreu , UB Kaiser , L Soriano-Guillen , A Escribano- Munoz , R Corripio , JI Labarta , L Travieso-Suarez , NV Ortiz-Cabrera , J Argente , BB Mendonca , VN Brito , AC Latronico

J Clin Endocrinol Metab. 2021 Mar 25;106(4):10411050. 10.1210/clinem/dgaa955. PMID: 33383582. https://academic.oup.com/jcem/article-abstract/106/4/1041/6056669?redirectedFrom=fulltextIn brief: This paper describes the clinical and hormonal features of a large cohort of patients wit...

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ESPE Yearbook of Paediatric Endocrinology

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

7.2. Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations

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