Endocrine Abstracts

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by impaired cortisol synthesis, requiring life-long glucocorticoid (GC) replacement therapy. Given the detrimental systemic effects of GCs in the long term, the aim of our study was to assess whether CAH patients have increased metabolic and cardiovascular alterations compared with age-matched controls.Materials and methods: For this cross-sectional...

Adult GHD patients may have reduced BMD with high risk of vertebral and non-vertebral fractures which is thought to be reverted by long-term rhGH replacement therapy. In this study we aimed at identifying the determinant factors of vertebral fractures, as assessed by a radiological morphometric approach, in a cohort of adult patients with untreated GHD. Forty-two patients (27 males, 15 females; median age: 48 years, range: 30–67) with untreated severe (as defined by a pea...

GH deficiency (GHD) and excess of glucocorticoids are associated with increased risk of fragility fractures. Most adult GHD patients have other pituitary deficiencies, but it is unclear whether these deficiencies or their overreplacement therapies may influence the bone disease occurring in GHD. The aim of this study was to evaluate whether the prevalence of vertebral fractures may be influenced by glucocorticoid replacement therapy in hypopituitary males with GHD. We studied ...

Objective: Arthropathy is the commonest morbidity in acromegaly and the main determinant of quality of life in these patients. Most of current knowledge is derived from studies using conventional x-rays. This study aims to characterise acromegalic arthropathy using modern imaging techniques.Methods: Case control study comprising of 60 acromegaly patients (29 males, mean age 54.8± 12.9yrs) and 300 age/gender-matched controls from the publicly availab...

Introduction: Primary hyperparathyroidism is usually caused by a parathyroid adenoma (80-85%), occasionally by primary parathyroid hyperplasia (10-15%), and rarely by atypical parathyroid tumor (APT) or carcinoma (<1%). APT reflects parathyroid neoplasm of uncertain malignant potential which poses a challenge for differential diagnosis with parathyroid carcinomas. Most patients exhibit strong symptomatology of hypercalcemia at presentation shared with the benign causes of ...

Introduction: Osteoporosis is characterized by a low bone mass and a microarchiterctural disruption. Ageing and estrogen deficiency are the two most important factors for developing osteoporosis. With advanced age the balance between bone formation and resorption becomes progressively negative and non-bone factors contribute to the increased fracture risk with advancing age. Osteoporotic fractures constitute a major cause of morbidity and mortality in the elderly. Post-menopau...

Introduction: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis, with specific clinical features. Herein, we report a case of RTS with RECQL4 mutation, unusually associated with hypercortisolemia.Case report: An 18-year-old girl, born to consanguinous parents, with a history of xeroderma pigmentosum (XP) in two cousins, has been followed-up for RTS, since the age of 3 years. The diagnosis of RTS was made based on photosensitivi...

Background: Brown tumor of bone is a non-neoplastic lesion resulting from abnormal bone metabolism in hyperparathyroidism. Brown tumor, as the only and initial symptom of normocalcemic primary hyperparathyroidism is extremely rare.Case presentation: A 69-year-old female patient was admitted to the hospital with a mass in the right thigh. A mass lesion of the right distal femur with bone and soft tissue infiltration was observed in the lower extremity mag...

Primary hyperparathyroidism (PHPT) is frequently diagnosed as an incidental finding of hypercalcemia. Overt bone disease (osteitis fibrosa cystica or brown tumor), with history of pathologic fractures is a rare presentation.A 48-year-old woman was admitted in with pain in the right thigh after a trivial fall. She also complained of generalized weakness and lethargy over the last 2 years. Her medical history mention multiple bone fractures in the last 6 y...

A 32 year old Indian woman presented with a spontaneous patella fracture. Serum alkaline phosphatase was 3694 units per litre, calcium was 3.12 millimoles per litre and phosphate 0.81 millimoles per litre. Serum PTH concentration was >150 picomoles per litre and the 25-hyroxyvitamin D3 concentration was 7 nanomoles per litre. She was found to have a 5 cm parathyroid adenoma. A 44 year old Somalian woman presented to the rheumatology clinic with a 2 year history of aching in...