Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism.

ypoparathyroidism-retardation-dysmorphism (HRD) syndrome (OMIM 241410), also known as SanjadSakati syndrome, is a rare autosomal recessive disorder characterized by hypoparathyroidism, growth failure, developmental delay, and characteristic facies. We describe the effective short-term use (tapered over 12 days) of recombinant parathyroid hormone (PTH) (teriparatide) in an unusual genetic condition characterized by hypoparathyroidism. Standard treatment for hypoparathyroidism involves oral vitamin D analogues and calcium, often in large doses to achieve sufficient intestinal calcium transport to overcome the hypercalciuria and concomitant malabsorption. Despite its known physiological benefits, recombinant PTH is not usually considered in the treatment algorithm for hypoparathyroidism in the pediatric population.