Endocrine Abstracts

IntroductionThe malignancy risk of an adrenal nodule is based on clinical symptoms (rapid onset of hypercortisolism and hyperandrogenism; mass symptoms) and imaging characteristics. These suspicious criteria include boundary irregularities, heterogeneity, dimension>6 cm and density>20 HU (CT). However, these are not absolute criteria.Case reportWe report the case of a 43 years-old female patient with a histor...

Introduction: Alemtuzumab is a humanized anti-CD52 monoclonal antibody approved for the treatment of relapsing−remitting multiple sclerosis (RRMS). Through an immune reconstitution mechanism, it leads to thyroid autoimmunity in 35% of cases, with Graves’ disease (GD) being the most common presentation. Alemtuzumab-induced GD exhibits distinctive clinical and immunological features, with rarely reported cases of fluctuating thyroid status with documented both blockin...

We describe the case of a 69-year-old woman with bilateral adrenal incidentalomas identified in CT-scan: on the right, a 57 mm heterogeneous mass with <10 Hounsfield units(HU) with absolute washout of 16%; on the left a 13 mm mass with 35UH, intense contrast enhancement but washout of 66%. She had a recent onset of diabetes, hypertension, androgenic alopecia and facial hair. The systolic blood pressure remained persistently >160 mmHg despite receiving four antihyperten...

Introduction: Pheochromocytomas are rare neuroendocrine tumors whose malignancy is defined by the presence of metastases that may appear several years later. The appropriate follow-up time remains uncertain.Clinical Case: We present the case of a woman with a history of pheochromocytoma who underwent complete resection at 48 years old. The genetic evaluation was negative for mutations on RET, VHL, SDHB or SDHD genes. At 66 years old, a thoracic vertebral...

Introduction: The treatment of Primary Adrenal Insufficiency involves the chronic use of glucocorticoids. The balance between the dose needed to supply the cortisol deficit and the possible consequences of overtreatment is a challenge. In patients with Addison disease (AD), androgens deficiency is an additional factor for osteoporosis.Objective: To evaluate if there are differences in bone mineral density (BMD) in patients with Addison’s disease ver...

Introduction: The effects of long-term replacement therapy of primary adrenal insufficiency (PAI) are still a matter of debate. Glucocorticoid (GC) replacement regimens do not completely mimic the endogenous hormonal production and their monitoring is sometimes difficult. Therefore, some patients are exposed to mild GC excess with potential complications, such as hypertension, diabetes, and skeletal fragility. Data on bone mineral density (BMD) in PAI is still scarce and contr...

Introduction: Pseudohypoparathyroidism is a heterogeneous disease characterized by hypocalcemia, hyperphosphatemia and parathyroid hormone resistance. The distinct pseudohypoparathyroidism types are distinguished by physical features, the coexistence of other hormone resistances and genetic defects. Pseudohypoparathyroidism type Ib is more often associated with sporadic cases, unlike others types.Clinical Case: Male, born in France, diagnosed with pseudo...

Introduction: Hypopituitarism is a rare entity that can have different aetiologies. Symptoms are usually progressive and non-specific; therefore, many patients are underdiagnosed and untreated. We present a clinical case of a patient presenting septic shock, hyponatremia and central hypothyroidism.Case report: A 46-year-old man was admitted in ICU for septic shock of unknown origin and multiorgan failure. Hormonal profile showed central hypothyroidism, p...

Introduction: The Dandy-Walker complex (DW) comprises a rare intracranial malformation of the posterior fossa and multiple organ anomalies. The association with endocrine pathology is rare - described in isolated cases (Kallman syndrome, primary hypothyroidism (PH) and central precocious puberty). Noonan syndrome (NS) is a genetic disease usually diagnosed at birth, with variable phenotype. Most cases have AD transmission, with the PTPN11 gene mutation responsible for 50%....

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...