Endocrine Abstracts

Introduction: 17- α hydroxylase deficiency, an autosomal recessive disorder, is a rare cause of Congenital Adrenal Hyperplasia (CAH). The disease is usally diagnosed during infancy and childhood. We present here a rare case of an adult woman with 17-α hydroxylase deficiency diagnosed for first time in adulthood.Presentation: A 49 year old woman, with no previous medical history came to the emergency department of our hospital unconscious with G...

Introduction: Infectious diseases of the central nervous system (CNS) have been associated with hypopituitarism which relates to the severity, the localization and the cause of the infection. We present here a case of a CNS abscess and hormone deficiencies. A 53 years old man referred to the emergency department of our hospital with high fever and confusion and a 3 day history of weakness and anorexia. On clinical examination he was febrile (38.4oC), disoriented in ...

Introduction: Noonan syndrome is a genetic disorder that usually occurs on a sporadic basis (de novo mutuations) or with autosomal dominant inheritance. Patients present with dysmorphic facial features, cardiac disorders and short stature. Delay of puberty can also be noted. We present here an adult case of Noonan syndrome.Presentation: A 25 years old male presented to our department with low stature, decreased libido and absence of any secondary sexual ...

Introduction: Gonadal dysgenesis is a rare cause of primary amenorrhoea, and refers to a number of conditions in which gonadal development is abnormal leading to streak or hypoplastic gonads. We present a rare case of a girl with primary amenorrhea, tall stature, gonadal dysgenesis and karyotype 46,XX. A 15 years old girl with primary amenorrhoea referred to our department for futher investigation. On clinical examination she was tall (height 1.74 m), her weight was 76 kg and ...

Introduction: Poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC) have been conjectured to arise from well differentiated thyroid carcinoma (WDTC) due to frequently reported synchronous and metachronous occurrence. We demonstrate the simultaneous presence of divergent histological subtypes in a single thyroid gland, with escalating loss of p53 expression in more aggressive variants.Material and methods: A 60-year-old mal...

Non-alcoholic fatty liver disease (NAFLD) is a spectrum of disease spanning from simple steatosis to non-alcoholic steatohepatitis (NASH) with risk of progression to fibrosis and eventually cirrhosis. Dysfunction of the gut-liver axis plays a role the progression to NASH. Intestinal damage and increased permeability can increase the delivery of pathogen-associated molecular patterns (PAMPs), such as LPS and intact bacteria, to the liver where they can activate the TLR4 signall...

IntroductionThe routine assessment of postmenopausal women involves screening for cardiometabolic risk factors and bone health. Evaluation of the liver function is not commonly performed, even though this could be easily performed with the use of indirect markers, such as the Fibrosis 4 score. Recent evidence supports an association between liver cirrhosis and bone turnover, affecting both the trabecular and the cortical bone. Therefore, we aimed to expl...

BackgroundThe kidney or kidney-pancreas transplantation corrects many of the metabolic or biochemical abnormalities associated with chronic kidney disease (CKD); however, mineral bone disease (MBD) and cardiovascular pathology remain frequent in transplant recipients. This happens especially in patients who have long history of secondary hyperparathyroidism (SHPT), as well immunosuppressive therapy plays an important role in the progression of MBD.<p...

Skin diseases in patients with type 2 diabetes mellitus (T2DM) are increased. Patients with T2DM and psoriasis have an increased risk of psoriasis exacerbations.Objective: to study the influence of T2DM on the psoriasis treatment.Materials and methodsWe studied hospitalized patients with T2D and psoriasis in dermatological clinic during 5 years (n = 47) - the main group. Compar...

IntroductionThyrotropin-secreting pituitary adenomas (TSH-omas) are rare. For this reason each case of TSH-secreting pituitary tumor can help expand extensive clinical experience in world practice.Materials and methodsWe included 40 patients with TSH secreting pituitary adenomas. Hormonal profile: TSH (0.25-3.5 mIU/L), FT4 (9-20 pmol/l) FT3 (2.5-5.5 pmol/l) were measured by Architect i2000SR (Abbott Laborator...