Endocrine Abstracts

Introduction: Dyshormonogenesis accounts for approximately 10–15% of cases of congenital hypothyroidism. Although relatively uncommon, the presence of a neonatal goitre should raise suspicion of thyroid dyshormonogenesis. Advances in genomic sequencing have identified errors at all stages of the thyroid hormone synthesis pathway. We present a case of a fetal goitre with the infant subsequently being diagnosed with dyhormonogenesis secondary to two separate thyroglobulin g...

Although congenital hypothyroidism is sporadic in the majority, recessive and X-linked inheritance can also occur in monogenic disorders. In familial cases, the finding of genetic variation could identify specific phenotypes and unravel thyroid pathobiology.We describe three siblings born to non-consanguineous parents. The index case, a boy, presented at 1 year of age with severe developmental delay, expressive aphasia and hypotonia. Thyroid function sho...