hrp0089p3-p237 | Growth & Syndromes P3 | ESPE2018

Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman Betul , Celegen Kubra , Korkmaz Emine , Lafci Naz Guleray , Balik Zeynep , Demirbilek Huseyin , Duzova Ali

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...