Endocrine Abstracts

Introduction: Adrenal hematomas are very rare entities. They occur often associated with: trauma, anticoagulation, coagulopathy, septicemia, pregnancy complications or tumors. When none of these predisposing factors is present, diagnosis and treatment can become a real challenge.Case report: A 19-years-old woman presented with complaints of asteny, loss of appetite, loss of 10 kg in a month, and pain in right lumbar and abdominal regions. No other compla...

Pheochromocytomas are rare, catecholamine-secreting, adrenal neoplasms. In about 25% of cases they arise in patients with germline mutations. Malignancy occurs in about 10%.We retrospectively analysed the records of patients with histological diagnosis of pheochromocytoma submitted to adrenal surgery between 1987–2008 and followed in the Endocrinology department.Thirteen patients were included. We evaluated age on diagnosis; c...

Background: Von-Hippel-Lindau disease (VHL) is a rare (1/36.000 newborns), autosomal, dominant inherited tumour syndrome. A germline mutation in VHL tumour suppressor gene predisposes carriers to tumours in multiple organs. In the presence of positive family history, it can be diagnosed clinically in a patient with at least one typical VHL tumour.Clinical report: In December 2007, a 34 years-old women presented with palpitations and tachycardia, but norm...

Resistance to thyroid hormones (RHT) is a rare syndrome, with autosomic dominant transmission, due to mutations in thyroid hormones beta-receptor gene. Clinical presentation is variable for the same mutation. This hypothesis must be considered in presence of high levels of thyroid hormones and TSH not suppressed.The evaluation of a 15-year-old female patient, in 1990, harbouring a thyroid nodule, secondary amenorrhea and visual and auditory impairment sh...

Objective: The pathogenesis of pituitary tumours is still incompletely understood. Somatotropinomas occur both sporadically and in the context of familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and isolated familial somatotropinoma (IFS). Recently, germline mutations were reported in AIP (aryl hydrocarbon receptor interacting protein) gene in Finish and Italian families and in Finish patients with apparently sporadic pituitar...

Cushing’s syndrome is a rare disorder in children and adolescents. The diagnosis can be a challenge for the clinician, as its principal feature – obesity – is extremely common. We present three cases diagnosed in the last 20 years. The first one was a boy aged 17 that presented in 1984 with central obesity, acne, moon face with plethora, abdominal striae, easy bruising and skin atrophy. The investigations performed consisted in cortisol and ACTH plasma measureme...

BackgroundAutosomal dominant hypocalcaemia, caused by either inherited or de novo mutations in calcium-sensing receptor gene (CASR), is biochemically characterized by the presence of hypocalcaemia, hypercalciuria and inappropriately low levels of PTH. Receptor-activating mutations induce an increase sensitivity to calcium by parathyroid and renal cells, leading to suppression of PTH synthesis and consequently hypocalcaemia. Clinical manifestations are va...

IntroductionThe Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.Case reportWoman, 21-year-old, was refered for secondary amenorrhea. Med...

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy with high recurrence and poor prognosis. Lactate dehydrogenase (LDH) is an enzyme of the glycolytic pathway that is associated with tumour progression in several cancers. To date, evidence on the prognostic value of LDH in ACC is limited.Aims: To assess the impact of LDH in disease-free survival (DFS) in operated ACC.Materials and methods: Retrospective cohort study ...

Introduction: Therapy with hydroxychloroquine (HCQ) and chloroquine (CQ) constitutes a rare but documented cause of hypoglycemia in non-diabetic adults. The physiopathological mechanism is not fully understood, and symptoms may appear several years after starting treatment. In this paper, we describe the clinical presentation and investigation of a case of hypoglycemia attributed to HCQ therapy. Clinical Case: A 60-year-old female patient was referred fo...