ESPE Abstracts (2015) 84 P-2-233

Teriparatide (rhPTH) Therapy in a Boy with Hypoparathyroidism-Deafness-Renal Dysplasia Syndrome due to GATA3 Mutation

Dinesh Giri, Senthil Senniappan, Poonam Dharmaraj, Lynne Hatchard & Renuka Ramakrishnan

Alder Hey Children’s Hospital, Liverpool, UK

Background: Hypoparathyroidism is usually treated with calcium and vitamin D analogues. Replacing the deficient hormone using recombinant human parathormone Teriparatide (rhPTH) has not yet become a common practice. We report a 3-year-old boy with hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome who has been successfully treated with Teriparatide (1–34 rhPTH), who to our knowledge is only the second child reported in the literature to be successfully treated with Teriparatide.

Case: A term male infant born to non-consanguineous Asian parents presented with hypocalcaemic seizures at 1 month of age needing intensive care support and treatment with calcitriol and calcium supplements. Parathyroid hormone (PTH) level was inappropriately low at the time of hypocalcaemia suggesting hypoparathyroidism. He had bilateral sensorineural hearing loss from 5 months and his motor milestones were delayed. His hypocalcaemia was managed with calcium supplements and calcitriol. At 3 years of age, the patient moved to UK from India. His 25-hydroxy-vitamin D level and echocardiogram were normal. FISH for 22q11 deletion was negative. Despite treating with increasing doses of alfacalcidol (72 ng/kg per day) and calcium supplements (8 mmol/kg per day), the plasma calcium remained between 1.8–1.9 mmol/l with a high urinary calcium/creatinine ratio. Genetic evaluation revealed a heterozygous GATA3 mutation confirming HDR syndrome. He was commenced on Teriparatide subcutaneously at a dose of 4 μg twice daily resulting in normalisation of plasma calcium levels. This enabled the alfacalcidol and calcium supplements to be weaned and stopped quickly. Half the initial dose of Teriparatide (2 μg twice daily) is currently maintaining normocalcemia and parents report a noticeable improvement in the motor function.

Conclusion: rhPTH is an effective alternative treatment for patients with hpoparathyroidism which may avoid the potential side effects of conventional therapy and may also improve the motor function.

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