The Journal of Pediatrics
Volume 160, Issue 2 , Pages 345-348, February 2012

Recombinant Parathyroid Hormone Therapy for Severe Neonatal Hypoparathyroidism

Children’s Hospital at Westmead, Sydney, Australia

Received 16 May 2011; received in revised form 26 July 2011; accepted 9 September 2011. published online 03 November 2011.

Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome (OMIM 241410), also known as Sanjad-Sakati 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.

HRD, Hypoparathyroidism-retardation-dysmorphism, PTH, Parathyroid hormone, TBCE, Tubulin-specific chaperone E

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 The authors declare no conflicts of interest.

PII: S0022-3476(11)00936-X

doi:10.1016/j.jpeds.2011.09.022

The Journal of Pediatrics
Volume 160, Issue 2 , Pages 345-348, February 2012

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