The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation
This case illustrates the susceptibility to metabolic derangement for patients with mutations in DLK1 and the need for ongoing monitoring after puberty. Our summary of previously identified DLK1 variants and their metabolic consequences demonstrates the frequency of obesity, lipid abnormalities, and insulin dysregulation in this patient cohort in childhood and beyond. This knowledge can guide future clinical practice for patients with CPP patients due to DLK1 deficiency.
Authors
- Francesco d’Aniello (ORCID: https://orcid.org/0009-0000-1683-7460)
- Sasha Howard (ORCID: https://orcid.org/0000-0002-6698-903X)
- Jordan E. Read (ORCID: https://orcid.org/0000-0001-6731-4440)
- Yasmin Al Sayed (ORCID: https://orcid.org/0000-0003-2213-3229)
- Katia Mariniello (ORCID: https://orcid.org/0000-0002-4491-1944)
- Keval Bhavsar (ORCID: https://orcid.org/0000-0001-6567-1655)
- Leonardo Guasti (ORCID: https://orcid.org/0000-0002-4616-6044)
Institutions
- University of Rome Tor Vergata (IT)
- Queen Mary University of London (GB)
- Barts Health NHS Trust (GB)
- Bambino Gesù Children's Hospital (IT)
- William Harvey Research Institute (GB)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2024-10-17
- DOI
- https://doi.org/10.1159/000541554
- Citations
- 5
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 1.17