Management of Neonatal Severe Hyperparathyroidism Due to Homozygous CASR Mutation: Challenges and Literature Insights
This case highlights the challenges in managing NSHPT, especially in cases resistant to medical treatment. Subtotal parathyroidectomy proved essential for controlling hypercalcemia. Continued documentation of NSHPT cases will help improve treatment strategies and outcomes for this rare condition.
Authors
- Gökçe Velioğlu Haşlak
- Mehmet Bayram (ORCID: https://orcid.org/0000-0002-4933-4445)
- Hande Turan (ORCID: https://orcid.org/0000-0003-0121-3756)
- Hasan Karakaş (ORCID: https://orcid.org/0000-0003-2282-2606)
- Olcay Evliyaoğlu (ORCID: https://orcid.org/0000-0003-4851-8637)
- Dilek Bingöl Aydın (ORCID: https://orcid.org/0000-0001-6064-9205)
- İlayda Altun (ORCID: https://orcid.org/0000-0002-5002-1542)
- Elvan Bayramoğlu (ORCID: https://orcid.org/0000-0002-6732-8823)
- Gürkan Tarçın (ORCID: https://orcid.org/0000-0002-1874-7570)
- Nihat Aksakal (ORCID: https://orcid.org/0000-0002-1323-6587)
- Mert Uçar (ORCID: https://orcid.org/0000-0001-9187-5707)
- ahsen çolakoğlu
Institutions
- Istanbul University-Cerrahpaşa (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-02-12
- DOI
- https://doi.org/10.1159/000543911
- Primary Topic
- Parathyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00