ESPE2022 Poster Category 1 Pituitary, Neuroendocrinology and Puberty (77 abstracts)
A new DLK1 defect in a family with idiopathic CPP: elucidation of the male phenotype
Stefania Palumbo 1 , Grazia Cirillo 1 , Gianmaria Sanchez 1 , Alice Fachin 2 , Francesco Baldo 2 , Maria Grazia Pellegrin 3 , Alessandra Cassio 4 , Maria Carolina Salerno 5 , Mohamad Maghnie 6,7 , Maria Felicia Faienza 8 , Malgorzata Wasniewska 9 , Danilo Fintini 10 , Claudio Giacomozzi 11 , Sara Ciccone 12 , Emanuele Miraglia Del Giudice 1 , Gianluca Tornese 3 & Anna Grandone 1
1University of Campania Vanvitelli, naples, Italy; 2University of Trieste, trieste, Italy; 3nstitute for Maternal and Child Health IRCCS Burlo Garofolo, trieste, Italy; 4Pediatric Endocrine Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, bologna, Italy; 5Pediatric Endocrine Unit, Department of Translational Medical Sciences, University Federico II, naples, Italy; 6Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy; 7Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy; 8Department of Biomedical Sciences and Human Oncology, Pediatric Unit, University of Bari A. Moro, bari, Italy; 9Unit of Paediatrics, Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; 10Endocrinology Unit, University-Hospital Pediatric Department, Bambino Gesù Children's Hospital, roma, Italy; 11Unit of Pediatrics, Department of Maternal and Child Health, Carlo Poma Hospital, ASST-Mantova, Mantova, Italy; 12ediatric Unit - “M. Bufalini” Hospital, cesena, Italy
Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male patients with idiopathic CPP, negative for MKRN3 defect, by molecular screening for DLK1 defects.
Material and methods: This is a multicenter academic hospital center. Gene sequencing of DLK1 gene was performed by Sanger sequencing. Circulating levels of DLK1 were measured in those with DLK1 defects.
Patients: We enrolled 14 girls with familial CPP and 13 boys with familial or sporadic CPP.
Main outcomes measures: description of clinical and biochemical characteristics of patients with DLK1 defect
Results: A novel heterozygous mutation in DLK1, c.288_289insC (P.Cys97Leufs*13), was identified in a male proband, in his sister and their father. Age at onset of puberty was in line with previous reports in the girl and 8 years in the boy. The father with reported untreated CPP showed short stature. No metabolic derangement was present in the father except hypercholesterolemia. Undetectable Dlk1 serum levels indicated the complete lack of protein production in the three affected patients.
Conclusion: 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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