Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)

Zeynep Donbaloglu; Merve Gullu; Suat Tekin; Gungor Karaguzel; Mesut Parlak; Hale Tuhan; Doga Turkkahraman

doi:10.1515/jpem-2024-0569

Article

Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)

Zeynep Donbaloglu , Merve Gullu , Suat Tekin , Gungor Karaguzel , Mesut Parlak , Hale Tuhan and Doga Turkkahraman

Published/Copyright: January 23, 2025

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 5

Abstract

Objectives

Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor (CaSR) gene, leading to significant hypercalcemia and related complications.

Case presentation

We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous CaSR mutation (c.242T>A; p.I81K). Initial laboratory findings revealed markedly elevated serum calcium levels and high parathyroid hormone levels which were compatible with primary hyperparathyroidism. After initial management, bisphosphonates were administered, resulting in the patient remaining normocalcemic for 11 months, although hyperparathyroidism persisted. Then, due to the ongoing hyperparathyroidism, cinacalcet was added and continued for nine months. Finally, a total parathyroidectomy was performed. Postoperatively, the patient developed hypoparathyroidism, necessitating long-term supplementation with calcium and calcitriol. By the last follow-up at 3 years, the patient exhibited normal growth parameters and no neurodevelopmental deficits.

Conclusions

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.

Keywords: CaSR gene; neonatal hypercalcemia; hyperparathyroidism; cinecalcet; parathyroid autotransplantation

Corresponding author: Prof. Dr. Doga Turkkahraman, MD, Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, 07100, Muratpaşa, Antalya, Türkiye, E-mail: drdoga@hotmail.com

Research ethics: Not applicable.
Informed consent: The patient and their legal guardians provided written informed consent for the publication of this case report and any accompanying images. All identifiable personal information has been omitted or anonymized to protect patient confidentiality.
Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission. Please adjust in regard of single or multiple authors. Conceptualization: [ZD, DT]. Investigation: [ZD, MG, ST, GK, MP, HT, DT]. Diagnosis and Treatment: [ZD, MG, ST, GK, MP, HT, DT]. Writing – Original Draft: [ZD]. Writing – Review and Editing: [DT]. Supervision: [ZD, DT]. Final Approval: [ZD, MG, ST, GK, MP, HT, DT].
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflicts of interests: The authors declare that they have no conflicts of interest relevant to this case report. The genetic testing and clinical evaluation were conducted as part of routine patient care, and there are no financial or personal relationships with organizations that could potentially bias our findings or interpretation of the case.
Research funding: None declared.
Data availability: The genetic data supporting the findings of this study are available upon reasonable request from the corresponding author. The variant information and clinical details specific to the case described can be accessed under appropriate ethical considerations.

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Received: 2024-11-29

Accepted: 2025-01-10

Published Online: 2025-01-23

Published in Print: 2025-05-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0569

Keywords for this article

CaSR gene; neonatal hypercalcemia; hyperparathyroidism; cinecalcet; parathyroid autotransplantation