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Article

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

European journal of endocrinology - 1 Sept 2023

Montenegro Luciana, Seraphim Carlos, Tinano Flávia, Piovesan Maiara, Canton Ana P M, McElreavey Ken, Brabant Severine, Boris Natalia P, Magnuson Melissa, Carroll Rona S, Kaiser Ursula B, Argente Jesús, Barrios Vicente, Brito Vinicius N, Brauner Raja, Latronico Ana Claudia

Abstract excerpt

BACKGROUND: Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP). OBJECTIVE: We investigated genetic abnormalities of DLK1 gene in a French cohort of children with idiopathic CPP. Additionally, we explored the pattern of DLK1 serum levels in patients with CPP and in healthy children at...

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Identifiers

PMID: 37703313
DOI: 10.1093/ejendo/lvad129
PMCID: PMC10519858

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