Endocrine Abstracts

Medullary thyroid carcinoma (MTC) early spreads to cervical lymph nodes and to distant sites: mostly to the liver, lungs or bones. Unusual sites such as breast, skin or orbit have been also described. The aim of the study was to evaluate the frequency, localisation of unusual metastases of MTC and their impact on survival.Eligibility criteria for this study were the presence of a pathological confirmed diagnosis of MTC with distant metastases (other than...

Introduction: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH). In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway. Our objective was to characterize novel TACR3 mutations and to analyze neuroendocrine profiles in nCHH patients with TAC3/TACR3 biallelic mut...