Endocrine Abstracts

Introduction: In the geographical area of southern Spain, in the province of Huelva, we have detected prevalent cases of Dunnigan’s partial hereditary lipodystrophy. The genealogy, the suspicion phenotype and the coordination with the Genetics Service and Reference center, have borne fruit, and more and more families are detected in Our Area. The lipodystrophies, in general, are rare diseases that affect the adipose tissue, disappearance of it in different parts of the bo...

Toxic adenomas (TA) and toxic multinodular goiters (TMNG) are frequent causes of hyperthyroidism in Galicia, an endemic goiter area. In some European countries, 40–80% of toxic goiters are caused by TSH receptor (TSHr) and Gs alfa-subunit (Gsa) mutations that activate cAMP pathway.Aims: To study 1) the prevalence of TSHr and Gsa mutations in TMNG and TA from Galicia, 2) the clonality of sequenced samples, 3) the constitutive activity of the identifi...