Endocrine Abstracts

Premature ovarian insufficiency (POI) is a disorder in which amenorrhea, associated to elevated levels of gonadotropins, occurs before the age of 40 years.The proband, a 36-year-old woman, was born at term after an uneventful pregnancy and delivery from healthy non-consanguineous parents. Growth and mental developmental milestones were normal. At the age of 12 years she presented menarche followed by regular menses, she had no miscarriage and had a succe...

Background: Human cancer is characterized by the accumulation of somatic alterations including base substitutions, indels, structural rearrangements and somatic copy number alteration (CNA), either gain or loss, of chromosomes that can be responsible either for initiation and/or cancer progression. About 80% of Sporadic Medullary Thyroid Carcinoma (sMTC) harbor RET or RAS somatic alterations with a negative prognostic role for the presence of the RET mutation; a few s...