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Neonatal severe hyperparathyroidism

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism

Prevalence

N/A

US Estimated

N/A

Europe Estimated

Age of Onset

Neonatal

ICD-10

E21.0

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Neonatal severe hyperparathyroidism (NSHPT) is a life-threatening calcium disorder presenting within the first weeks of life, typically caused by biallelic inactivating mutations in the calcium-sensing receptor (CASR) gene

FACT

Infants develop marked hypercalcemia with serum calcium often >15 mg/dL, accompanied by very high parathyroid hormone (PTH) levels

FACT

Clinical manifestations include failure to thrive, hypotonia, respiratory distress, skeletal demineralization, and fractures, reflecting both metabolic and skeletal complications

FACT

Standard medical therapies (hydration, bisphosphonates, calcitonin, cinacalcet) are often inadequate, and total parathyroidectomy is usually required to control hypercalcemia

FACT

Without prompt diagnosis and intervention, NSHPT carries a high risk of neurological damage, severe bone disease, and early mortality; however, early surgery can be curative

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