Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)
This case underscores the importance of early diagnosis and intervention in NSHPT and highlights the critical role of medical treatment, surgical management and long-term follow-up in optimising patient outcomes. Continued research is essential to enhance understanding and treatment strategies for NSHPT.
Authors
- Hale Tuhan (ORCID: https://orcid.org/0000-0002-7637-9630)
- Doğa Türkkahraman (ORCID: https://orcid.org/0000-0002-7472-5712)
- Zeynep Donbaloğlu (ORCID: https://orcid.org/0000-0003-0605-3229)
- Güngör Karagüzel (ORCID: https://orcid.org/0000-0002-7003-0876)
- Mesut Parlak (ORCID: https://orcid.org/0000-0001-9692-8396)
- Suat Tekin (ORCID: https://orcid.org/0000-0002-2867-3851)
- Merve Güllü (ORCID: https://orcid.org/0000-0002-1014-5831)
Institutions
- Akdeniz University Hospital (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-01-22
- DOI
- https://doi.org/10.1515/jpem-2024-0569
- Primary Topic
- Parathyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00