Endocrine Abstracts

Parathyroid carcinoma (PC) rarely presents with metastasis at diagnosis and usually in patients also having gross local invasion.Case presentation: We report the case of a 51-year-old postmenopausal woman presenting at our institution in June 2019 with symptomatic hypercalcemia (fatigue, polyuria, constipation and bone pain), but with a surprisingly good general condition. She had been treated with bisphosphonates for osteoporosis (DXA: LS T score &#8722...

Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...

Introduction: Plurihormonal pituitary adenomas are unusual tumors which typically belong to one cell lineage and have an incidence of approximately 1.3%, the most common combination being GH, PRL and glycoprotein hormone subunits. There are a few cases in the literature describing cosecretion of GH and ACTH from a pituitary adenoma, the incriminated pathogenesis being the origin from different cell lineages and the aberrant patterns of transcription factors.<p class="abste...