Endocrine Abstracts

Background: Medullary thyroid carcinoma (MTC) can result from an inherited predisposition related to variants in the RET gene. The insTTCTdelG variant in codon 666 has been previously associated with MTC in one family, but larger studies are not available. We aim to describe biochemical and clinical characteristics associated with this genetic variant in sixteen Belgian families.Methods: Retrospective study of sixteen families in Belgium, evalua...

Early 2005 we reported on a new insertion-deletion mutation (insTTCTdelG) at codon 666 (exon 11) of the RET proto-oncogene. The index patient, a 12 year old boy with locally metastasized MTC, inherited the mutation from his maternal grandfather. His mother had a basal calcitonin of 30 ng/l and underwent a prophylactic total thyroidectomy at age 48, showing C-cell hyperplasia in both lobes and early MTC with a maximum size of 1.5 mm. At age 82, his grandfather did not have clin...

Introduction: Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by the combination of facial dysmorphia, short stature and congenital heart disease. The mutation of the PTPN11 gene is present in 50% of cases, recently the mutation of other genes was found, notably KRAS and SOS1. We report the case of a patient followed in our department for NS with a SOS1 gene mutation.Case report: A 4 years old male patient, referred to our de...