IntroductionPrimary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. No previous studies have characterized Portuguese patients with PAI.AimsTo characterize the clinical presentation, diagnostic workup, treatment and follow‐up of Portuguese patients with confirmed PAI.MethodsThis multicentre retrospective study examined PAI patients in 12 Portuguese hospitals.ResultsWe investigated 278 patients with PAI (55.8% were females), with a mean age of 33.6 ± 19.3 years at diagnosis. The most frequent presenting clinical features were asthenia (60.1%), mucocutaneous hyperpigmentation (55.0%) and weight loss (43.2%); 29.1% of the patients presented with adrenal crisis. Diagnosis was established by high plasma ACTH and low serum cortisol in most patients (43.9%). The most common aetiology of PAI was autoimmune adrenalitis (61.0%). There were 38 idiopathic cases. Autoimmune comorbidities were found in 70% of the patients, the most frequent being autoimmune thyroiditis (60.7%) and type 1 diabetes mellitus (17.3%). Seventy-nine percent were treated with hydrocortisone (mean dose 26.3 ± 8.3 mg/day) mostly in three (57.5%) or two (37.4%) daily doses. The remaining patients were treated with prednisolone (10.1%), dexamethasone (6.2%) and methylprednisolone (0.7%); 66.2% were also on fludrocortisone (median dose of 100 µg/day). Since diagnosis, 33.5% of patients were hospitalized for disease decompensation. In the last appointment, 17.2% of patients had complaints (7.6% asthenia and 6.5% depression) and 9.7% had electrolyte disturbances.ConclusionThis is the first multicentre Portuguese study regarding PAI. The results emphasize the need for standardization in diagnostic tests and etiological investigation and provide a framework for improving treatment.

No abstract

No abstract

Takotsubo cardiomyopathy (TTC) is characterized by reversible left ventricular apical and/or midventricular hypokinesia with unknown etiology. The clinical presentation is similar to acute myocardial infarction in the absence of significant obstructive coronary artery disease. Various predisposing factors have been related to TTC, such as acute neurological illnesses, endocrine diseases, pain, and emotional stress. We present the first description of an association between TTC cardiomyopathy and panhypopituitarism. This case reinforces the connection between the hormonal and cardiovascular systems. Furthermore, it supports the importance of a comprehensive and integrated medical history in the approach of a patient with cardiac disease, towards clinical decision-making.

Introduction. Adrenal glands play a major role in the control of blood pressure and mild defects of steroidogenesis and/or inappropriate control of mineralocorticoid production have been reported in high blood pressure (HBP). Patients and Methods. We used a specific protocol for the evaluation of 100 consecutive patients with inappropriate or recent onset HBP. Specific methods were used to confirm HBP and to diagnose secondary forms of HBP. In addition we tested adrenal steroidogenesis with the common cosyntropin test, modified to include the simultaneous measurement of renin and aldosterone besides 17-hydroxyprogesterone (17OHP) and 11-deoxycortisol (S). Results. Secondary forms of HBP were diagnosed in 32 patients, including 14 patients with primary hyperaldosteronism (PA) (14%) and 10 patients with pheochromocytoma (10%). Mild defects of the 21-hydroxylase (21OHD) and 11-hydroxylase (11OHD) enzymes were common (42%). ACTH-dependent aldosterone secretion was found in most patients (54%) and characteristically in those with mild defects of adrenal steroidogenesis (>60%), PA (>75%), and otherwise in patients with apparent essential HBP (EHBP) (32%). Discussion. Mild defects of adrenal steroidogenesis are common in patients with HBP, occurring in almost half of the patients. In those patients as well as in patients with apparent EHBP, aldosterone secretion is commonly dependent on ACTH.

baCKgROUND aND ObJECTIvE: multiple Endocrine Neoplasia type 2 (mEN2) is a rare genetic disorder characterized by medullary thyroid carcinoma (mTC), pheochromocytoma and primary hyperparathyroidism. mEN2 is an autosomal dominant syndrome caused by mutations in the RET proto-oncogene. In the vast majority of patients, the mutations are localized in exons 10, 11 and 13-15 of the RET gene. Rare variants located in exon 8 were recently identified but their clinical significance remains unclear. DESIgN aND mEThODS: We studied two sisters presenting with pheochromocytoma as the first tumor. One of the sisters was diagnosed with a right pheochromocytoma at the age of 44 and at age 53 she developed an invasive left pheochromocytoma with no other endocrine neoplasia. The other sister was diagnosed with a left pheochromocytoma at age 50 and at age 64 she had a right phemochromocytoma and mTC. Neither of the two sisters presented evidence of primary hyperparathyroidism. mutations of the RET proto-oncogene were investigated by DNa sequencing. RESUlTS: We detected a germline missense variant in RET exon 8 (p.Cys531arg) in both sisters. The p.Cys531arg variant was not present in a third 50-year-old sister who has remained to date clinically unaffected. CONClUSION: This is the first case showing the p.Cys531arg variant in RET exon 8 co-segregating with family members affected by a syndrome reminiscent of mEN2a. Our results suggest that this variant has a specific genotype-phenotype correlation as it is associated with the development of pheochromocytoma before the onset of mTC.

Funding Acknowledgements Type of funding sources: None. Introduction Catheter ablation (CA) prevents ventricular tachycardia (VT) recurrences in patients (pts) with structural heart disease (SHD), and might have a favorable outcome, but is associated with severe short-term complications. Identification of pts at high risk of periprocedural acute haemodynamic decompensation has important implications at procedural planning. The PAINESD risk score is a promising tool to predict VT ablation procedure-related mortality. Aim To evaluate the accuracy of the PAINESD risk score to predict short-term mortality after structural VT ablation and to compare it with other conventional clinical predictors. Methods Prospective, observational, single-centre study of consecutive pts with SHD (ischemic or nonischemic), referred for VT-CA. High-density substrate maps were collected, through endocardial, epicardial or combined endo-epicardial approaches according to clinical data and operator preference. The primary endpoint was 30-day mortality or hemodynamic decompensation. Univariate Cox regression analysis was used to identify relevant clinical predictors and to compare them with the PAINESD risk score. Multivariable Cox proportional hazards regression models were used to estimate predictors of 30-day mortality. Results A total of 102 pts with SHD referred for VT ablation were evaluated(mean age: 67±11 years, 94% male, 78.4% in NYHA class I-II; mean LVEF was 34±11%). The baseline PAINESD risk score was 12.39±5.8, 19.6% at low risk, 36.3% at intermediate risk and 27.5% at high risk of adverse events. Overall 30-day mortality was 4.9%. The PAINESD did not predict 30-days mortality or hemodynamic decompensation (p= 0.93). Indeed, a non- significant trend to higher short and long-term mortality was noticed in high-risk score pts – Figure 1. On univariate analysis age>65 years (p=0.019), LVEF <35% (p=0.049), body mass index<28kg/m2 (p=0.019), CKD (p=0.001) and previous VT ablation (p=0.022) were prognostic predictors. On multivariate analysis, only LVEF<35% (HR2.225; CI95% 1.004-4-774,p=0.038) and CKD (HR 3.35; CI95%: 1.31-8.51, p=0.011) were independent predictors of short-term prognosis. Conclusions In our population, LVEF<35% and CKD were the strongest predictors of short-term mortality. PAINESD risk score was not accurate in predicting adverse events. New score systems must be derived for prognostic stratification in this population, incorporating the reduction on the actual short-term event rates after VT ablation.

A 68 year-old female presents with an ulcerated mass of the 5th digit, with rapid growth during the previous month to surgery. The mass was excised and covered with a 4th dorsal metacarpal artery perforator flap. The histologic analysis was compatible with the diagnosis of fibro-osseous pseudotumor of the digit.