Endocrine Abstracts

Background: Normal sex development is warranted by a complex and coordinated interaction between mutually antagonistic activating and repressing genetic and hormonal factors that act in a strict spatio-temporal sequence. Deviations from this established pattern can result in heterogenous chromosomal, gonadal or phenotypic congenital abnormalities named disorders of sexual development (DSD). We present a rare case of early testicular regression syndrome.C...

Introduction: McCune-Albright syndrome is a rare, heterogenous disorder, consisting of at least two of the following three features: polyostotic fibrous dysplasia, café-au-lait skin pigmentation and autonomous endocrine hyperfunction. We present the case of a patient with an atypical presentation of McCune Albright syndrome (MAS) and severe fibrous dysplasia lesions.Case report: An 18-year-old girl diagnosed with MAS (at the age of four) was referre...

Introduction: Acromegaly is a rare, chronic endocrinopathy, that results from persistent hypersecretion of growth hormone (GH) and consequently of insulin-like growth factor 1 (IGF1). It is well known that GH excess has multisystemic effects throughout the body, but its interaction with the immune system has only been suggested in the last few decades. This prompted us to explore the frequency of autoimmune disorders in a retrospective acromegaly cohort....