Work

Severe Hyperparathyroidism in a 3-year-old girl Due to Homozygous Inactivating Variant of the Calcium Sensing Receptor Gene

Year: 2025

Type: article

Abstract: Homozygous inactivating pathogenic variants of calcium-sensing receptors cause severe hyperparathyroidism (HPT), typically presenting in early infancy. In the pediatric age group, HPT is uncommon and can be due to parathyroid adenoma or hyperplasia. We describe the case of a 3-year, 10-month-old girl who presented with severe HPT with symptomatic hypercalcemia, skeletal demineralization, and bone pains resulting from a homozygous missense variant p.Gly670Arg in the CaSR gene that was previously reported in association with familial hypocalciuric hypercalcemia in its heterozygous state. Parathyroidectomy with autotransplant of one-fourth of the gland in the forearm did not result in a cure even after the removal of autotransplant. In addition to controlling preoperative hypercalcemia, pamidronate helped alleviate bone pains and improve skeletal remineralization when used postoperatively for a brief period.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf057

Authors: Sirisha Kusuma Boddu, Rabindera Nath Mehrotra, Siddhartha Chakravarthy

Institutions: Rainbow Children's Hospital, Apollo Hospitals, Apollo Hospitals, Apollo Hospitals, Apollo Hospitals

Language: English

Topic: Parathyroid Disorders and Treatments

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930