A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
S PalumboG CirilloG SanchezF AielloA FachinF BaldoM C PellegrinA CassioM SalernoM MaghnieM F FaienzaM WasniewskaD FintiniC GiacomozziS CicconeE Miraglia Del GiudiceG TorneseAnna GrandonePublished in: Journal of endocrinological investigation (2022)
A DLK1 defect has been identified for the first time in a boy, underscoring the importance of genetic testing in males with idiopathic or sporadic CPP. The short stature reported by his untreated father suggests the need for timely diagnosis and treatment of subjects with DLK1 defects.
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