Endocrine Abstracts

Introduction: Primary hyperaldosteronism (HAP) is the main cause of secondary hypertension, with a prevalence estimated between 6 and 20% in resistant hypertension. Clinical suspicion is critical, especially if aldosterone-to-renin ratio (ARR) >25, however the diagnosis is dependent on confirmatory evidence, including aldosterone suppression tests.Methods: Retrospective evaluation of 44 patients with suspected PAH, identified betwee...

Introduction: Hypophostemic rickets is characterized by phosphate renal loss associated with a primary defect of osteoblasts and metabolism of vitamin D. Marked bone turnover caused by high levels of parathyroid hormone attribute to these patients an elevated risk for hungry bone syndrome after parathyroidectomy.Case report: A 34-years old woman with a past history of Lynch syndrome and hypophostemic rickets associated with hyperparathyroidism and brown ...

Introduction: In most cases, adrenal incidentalomas are non-functioning adrenocortical adenomas, but may also represent conditions in which therapeutic intervention is essential, such as pheochromocytomas, even with low index of suspicion.Case reports: Case report 1. Fifty-three-year-old male with history of arterial hypertension (HT), type 2 diabetes Mellitus and myocardial infarction, with a right adrenal incidentaloma found in abdomi...

Introduction: In patients with well-differentiated thyroid cancer (DTC) low/undetectable thyroglobulin (Tg) at time of remnant ablation usually reflects a complete previous surgery. However, in a small percentage (6.3–16%) it can represent false negative values.Objectives: Evaluate the frequency of patients with low/undectable Tg at time of remnant ablation with locoregional or distant lesions at post-ablative 131I whole body scan (WBS) a...

Introduction: Subclinical Cushing’s syndrome (SCS) is the most frequent endocrine dysfunction found in adrenal incidentalomas. Although adrenalectomy constitutes a therapeutic option for selected cases, the presence of bilateral tumours can difficult the surgical decision.Objective: Evaluate the utility of 131I-6β-iodomethyl-19-norcholesterol scintigraphy in SCS with bilateral adrenal tumours.Methods: Retrospec...

Introduction: Definitive diagnosis of lymphocytic hypophisitis (LH) lacks a pathological analysis. The detection of pituitary antibodies (PAB) with the current methods presents variable results and its clinical utility is therefore limited. Recently, new methods were released for the interpretation of indirect immunofluorescence (IIF), which can increase the specificity for detection of PAB.Methods: We evaluated four patients followed in endocrinology co...

Introduction: Neurofibromatosis type 1 is a disease caused by mutations in the tumor suppressor gene NF1.Although pheochromocytoma is a rare manifestation in these patients (~0.1–5.7%), the incidence is significantly higher than that of the general population.Results (case description): A 50 years old female patient had a clinical diagnosis of neurofibromatosis type 1 since she was 5 years old. She received follow-up in ...

Introduction: Adrenocortical carcinoma is a rare endocrine disease characterized by an aggressive behaviour with a poor prognosis. Clinical experience, even with a little number of patients, has enhanced knowledge about this malignancy, in most cases challenging.Objective: Characterization of patients with adrenocortical carcinoma followed at the endocrine department of a hospital centre, between 1991 and 2019.Methods: Retrospectiv...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. Adrenocortical insufficiency (AI) occurs mainly in paediatric age and it can be the first manifestation of the disease in some cas...

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.Case report: A 37-year-old patient was referred to an Endocrinology departm...