Neonatal Hypocalcemia and Maternal Hypercalcemia: Exploring the Potential Connection to Parathyroid Adenoma and CaSR Mutations
- Fluid, Electrolyte, Acid-Base Disorders: Clinical - II
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Fluid, Electrolytes, and Acid-Base Disorders
- 1102 Fluid, Electrolyte, and Acid-Base Disorders: Clinical
- Ding, Jhao-Jhuang, Tri-Service General Hospital, Taipei, Taiwan
- Lin, Shih-Hua P., Tri-Service General Hospital, Taipei, Taiwan
- Tseng, Min-hua, Chang Gung Memorial Hospital Linkou, Taoyuan, Taiwan
This study aims to investigate the relationship between neonatal hypocalcemia and maternal hypercalcemia, and to explore potential genetic predispositions related to parathyroid adenoma and CaSR mutations in mothers.
Neonates presenting with late-onset (≥3 days) hypocalcemic tetany or seizures, low serum total calcium, high serum phosphorus, and inappropriately low or normal iPTH levels suggestive of hypoparathyroidism were prospectively enrolled. Hypomagnesemia, high phosphate intake, and kidney function impairment were excluded. Following enrollment, all mothers were evaluated for potential causes of neonatal hypocalcemia.
Seven full-term newborns (six males, one female) and their mothers were enrolled. All newborns were diagnosed with transient hypoparathyroidism secondary to maternal hypercalcemia. To investigate the cause of maternal hypercalcemia, maternal serum calcium, phosphorus, iPTH levels, and parathyroid scans were assessed. Five mothers were found to have parathyroid adenoma, and one was confirmed to have a CaSR loss-of-function genetic mutation.
All newborns were treated with oral calcium gluconate combined with cholecalciferol or calcitriol. After approximately one month of treatment, serum calcium and phosphate levels normalized, and the iPTH-Ca correlation was restored. Following parathyroidectomy in mothers with parathyroid adenoma, serum calcium levels normalized, but elevated iPTH levels persisted for months. The mother with the CaSR loss-of-function mutation exhibited a similar trend in serum calcium and iPTH levels.
This study underscores the importance of evaluating maternal calcium homeostasis in cases of neonatal hypocalcemia and highlights a potential genetic association between neonatal symptoms and maternal parathyroid adenoma and CaSR mutations. Further research is warranted to understand the genetic basis and optimize management strategies for both conditions.