A pediatric case of autosomal dominant hypocalcemia type 2

Satoko Takahashi; Tatsuo Fuchigami; Junichi Suzuki; Ichiro Morioka

doi:10.1515/jpem-2023-0097

Article

A pediatric case of autosomal dominant hypocalcemia type 2

Satoko Takahashi , Tatsuo Fuchigami , Junichi Suzuki and Ichiro Morioka

Published/Copyright: August 16, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 10

Abstract

Objectives

Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and hyperphosphatemia secondary to hypoparathyroidism. It is classified as type 1, caused by gain-of-function mutations of the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11, which is a crucial mediator of CASR signaling. What is new? We report a rare pediatric case of ADH type 2.

Case presentation

The patient was a 15-year-old girl with short stature. Blood tests demonstrated hypocalcemia and hyperphosphatemia without elevated parathyroid hormone levels. Brain computed tomography revealed calcification in the bilateral basal ganglia. Genetic testing revealed the rare GNA11 mutation, c.1023C>G (p.Phe341Leu). The patient was diagnosed with ADH type 2. She had experienced numbness and tetany in her hands for several years, which improved with alfacalcidol therapy.

Conclusions

Our patient is the third female and first pediatric reported case of a variant mutation in the GNA11 gene (ADH type 2), c.1023C>G (p.Phe341Leu).

Keywords: autosomal dominant hypocalcemia; calcium-sensing receptor; hypocalcemia

Corresponding author: Satoko Takahashi, MD, Department of Pediatrics, IMS Fujimi General Hospital, 1967-1 Tsuruma, Fujimi City, Saitama, 354-0021, Japan; and Department of Pediatrics and Child Health, Nihon University School of Medicine, Itabashi-ku, Japan, Phone: +81 49 251 3060, Fax: +81 49 254 1224, E-mail: takahashi.satoko.nu@gmail.com

Research funding: None declared.
Author contributions: S.T. drafted the manuscript. All authors collected the clinical data. T.F., J.S., and I.M. provided technical support and conceptual advice. I.M. supervised the study. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved the submission.
Competing interests: The authors declare no conflicts of interest. No financial support was received for the study.
Research ethics: This case study was performed according to the relevant guidelines and regulations.

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Received: 2023-03-06

Accepted: 2023-07-18

Published Online: 2023-08-16

Published in Print: 2023-10-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0097

Keywords for this article

autosomal dominant hypocalcemia; calcium-sensing receptor; hypocalcemia