Endocrine Abstracts

Endogenous hypercortisolism is a well-known immunosuppressive condition. Such endogenous cortisol secretion could suppress the clinical presentation of an ongoing autoimmune process.A 49-year-old woman was admitted in our service in august 2010 for Cushing clinical signs, arterial hypertension and hypokalemia. She had high plasma cortisol not suppressed by 1 and 8 mg dexamethasone overnight, low ACTH. Abdominal computed tomography demonstrated a tumor (3...

Infundibulohypophysitis is an unusual inflammatory condition that affects the infundibulum, the pituitary stalk and the neurohypophisis and may be a part of a range that includes lymphocityc hypophysitis. It occurs mainly in women and most often presents in later stages of pregnancy. Infundibilohypophysitis usually presents with diabetes insipidus. The case of a 30-year-old woman with diabetus insipidus diagnosticated in the third trimester of the pregnancy is reported. She wa...

Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by hyperphagia with progressive obesity, dysmorphic features, hypotonia, mental retardation, behavioural abnormalities and endocrine dysfunctions as hypogonadism and growth hormone (GH) deficiency. PWS is the most commonly identified genetic cause of obesity.Methods: We reviewed five cases of confirmed PWS (three female and two male patients, aged between 8 and 32 years...

We made a retrospective study of X monosomy cases identified in our laboratory in the last 10 years. The aim of study was to establish a correlation between different forms of X monosomy, and age for confirmation of cytogenetic diagnosis. Between 2010 and 2019 we confirmed 81 cases of Turner syndrome in our laboratory. We found different forms of X monosomy and the most frequent was X homogenous X monosomy. We found 24 cases (29.62%) of X homogenous monosomy (median age of dia...