Neonatal severe primary hyperparathyroidism: A series of four cases and their long-term management in India

Abstract

Context: Neonatal severe primary hyperparathyroidism (NSPHPT) is an extremely rare autosomal recessive disorder, requiring a high index of suspicion. Infants affected with this disorder present with severe life-threatening hypercalcemia early in life, requiring adequate preoperative medical management followed by surgery. Aims: We report four newborns with NSPHPT who were managed over 10 years. Subjects and Methods: Demography, clinical presentation, treatment, and follow-up data were retrospectively studied with descriptive analysis to highlight the utility of long-term medical management, surgery, and genetic testing reported in the literature. Statistical Analysis Used: Descriptive Analysis. Results: We had three males and one female infant with a mean age of diagnosis at 28.7 days, calcium 29.2+/-2.8 mg/dL, and parathormone (PTH) 1963+/-270.4 pg/mL. All four infants presented with failure to thrive, hypotonia, and respiratory distress. All infants were treated medically followed by total parathyroidectomy plus transcervical thymectomy, with an additional hemithyroidectomy in one of them. Imaging was negative in all four cases. Three babies became hypocalcemic while the fourth infant had a drop in PTH and is on the tab. cinacalcet 30 mg/day. CaSR mutation was positive in three infants. Conclusions: Diagnosing NSPHPT needs expert clinical acumen. It requires emergency medical management to control calcium levels. The crisis may present later, necessitating parathyroidectomy in these cases once the child is fit for surgery. Surgery offers a cure for this unusual lethal hypercalcemia while the role of cinacalcet needs a special mention. Sound knowledge in endocrinology with parathyroid embryology and morphology is of paramount importance. Our case series might add a few insights into managing this unusual genetic disorder.

Primary Hyperparathyroidism in Young and Adolescents: Alike or Unlike Adult Hyperparathyroidism? - A Series from South India

“…NSPHPT was operated as described in the prior study published by us. [ 1 ] Parathyroids were approached laterally after mobilizing the sternocleidomastoid on either side. They were identified with the nerve, the position of the superior being more consistent and posterolateral to the nerve.…”

“…They were identified with the nerve, the position of the superior being more consistent and posterolateral to the nerve. [ 1 7 8 ] Inferior parathyroids are anteromedial to the nerve [ Figure 2 ]. Parathyroids are identified as pink structures with no surrounding fat, unlike the adults, which it is more yellow with surrounding fat.…”

“…PHPT is a common disease in the middle age and elderly group. [ 1 2 ] The incidence of PHPT in children on the other hand is far lesser in children, contributing to 2-5 per 1 lakh children. [ 3 ] Symptoms in adolescents are usually atypical as compared to adults and may lead to delays in diagnosis.…”

The role of the calcium-sensing receptor in the regulation of parathyroid hormone secretion in physiology and in calcitropic diseases

“…Указанные нарушения кальциевого гомеостаза обуславливают дефекты минерализации костной ткани, и в дальнейшем могут приводить к развитию переломов, а также к респираторному дистресс-синдрому вследствие деформации грудной клетки. Выраженность данных проявлений определяет продолжительность жизни таких пациентов [36]. Ранее единственным видом лечения неонатального гиперпаратиреоза была тотальная паратиреоидэктомия, однако в настоящее время применение лекарственных препаратов, таких как бисфосфонаты и кальцимиметики, показывает не меньшую эффективность [37].…”