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ea0024oc2.6 | Oral Communications 2 (Brief Communications) | BSPED2010

Novel TSHR mutations in a large cohort of consanguineous families with congenital non-goitrous hypothyroidism

Cangul H , Aycan Z , Saglam H , Yakut T , Karkucak M , Bas V , Eren E , Yuca S , Demir K , Cetinkaya S , Kirby G A , Morgan N V , Forman J R , Tarim O , Bober E , Cesur Y , Kendall M , Hogler W , Barrett T G , Maher E R

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...

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Endocrine Abstracts

Novel TSHR mutations in a large cohort of consanguineous families with congenital non-goitrous hypothyroidism

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