Endocrine Abstracts

BackgroundAromatase deficiency is an extremely rare autosomal recessive condition due to mutations on CYP19A1 gene. Despite the size and complexity of this gene, only about 40 cases with aromatase deficiency have been reported.Case reportThe patient was born at term from non-consanguineous parents. Maternal signs of virilization were verified during third trimester (deep voice, acne on arms and face ...

Introduction: Central diabetes insipidus (DI) is a frequent complication of transfenoidal surgery for Cushing’s disease (CD). It can be transient or, more infrequently, permanent. The most common mechanism results from surgical neurohypophyseal damage rather than local mass effect from the pituitary adenoma.Case report: A 40 years old woman was referred to our Endocrinology outpatient clinic at the beginning of 2015 for new onset hypertension, signi...

Background: Childhood cancer survivors (CCS) are at high risk of 25-hydroxivitamin D (25(OH)D) inadequacy and the lack of a consensual definition has hampered its epidemiological study. Despite international recommendations, bone health and vitamin D inadequacy (VDI) are still quite undervalued, even in a high-risk population as CCS, due to disease treatment, physical limitations and insufficient solar exposure. Objectives: Our aims were to determine the...

Introduction: Acute Kidney Injury (AKI) is highly prevalent during hospitalization of patients with type 2 diabetes (T2D), and has been associated with increased risk of hypoglycaemia in Intensive Care Units. However, this association in non-critically ill patients is less clear and evidence on the impact of AKI’s severity and duration on hypoglycaemia is lacking.Objectives: To assess the impact of AKI and its severity and duration on the risk of hy...

Introduction: Polyglandular Autoimmune Syndromes (PAS) are a group of diseases characterized by the association of different endocrine and non-endocrine autoimmune pathologies. Although the diagnosis of PAS is more frequent in adulthood, it can occur in pediatric age, with PAS type 3 being the most frequent.Objective: To study the prevalence and characteristics of PAS in the pediatric population of a tertiary center.Methods: Retros...

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...

Introduction: Graves’ disease (GD) is a systemic autoimmune disease characterized by lymphocyte activation and synthesis of anti-TSH receptor antibodies (TRABs). Higher values of TRABs are associated with a higher risk of Graves’ ophthalmopathy and dermatopathy. Iodine-131 therapy (RAI) is one of the well-established options in GD, but it can cause a transient increase in TRABs.Objectives: To evaluate the evolution of TRABs after RAI; to identi...

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...