Endocrine Abstracts

Introduction: Thyroid Hormone Resistance (THR) is a rare clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter without clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTHβ, usually identified in late childhoo...

Background CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however 85% of the cases remain with unknown molecular aetiology.Patient and methodsA newborn boy (46, XY) delivered by CS due to IUGR with a birthweight of...