Is calcium signaling relevant for long bone growth?

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder affecting calcium homeostasis.
• It is often caused by inactivating mutations in the calcium-sensing receptor gene.
• NSHPT can be fatal without early total parathyroidectomy.

Observation:

• A male patient with NSHPT, born to consanguineous hypercalcemic parents, was followed until age 21.
• The patient underwent total parathyroidectomy and was treated with calcium, calcitriol, and later recombinant human parathyroid hormone [rhPTH (1-84)].
• A statural defect, characterized by shortened long bones, was observed.

Findings:

• This case presents a unique long-term follow-up of NSHPT's adult phenotype after total parathyroidectomy.
• Treatment with rhPTH (1-84) was initiated due to poor compliance with standard supplementation.
• The patient exhibited a statural defect with an increased upper to lower segment ratio.

Implications:

• This study provides the first description of a growth defect in NSHPT due to shortened long bones.
• Further research is needed to understand calcium signaling's role in human growth plate cartilage.
• This case contributes to understanding the long-term management and potential complications of NSHPT.