Introduction: Ectopic ACTH production is a very unusual cause of Cushing Syndrome (CS). When it occurs, lung cancer is the main cause. Very rarely, this ectopic source of ACTH can arise from a Pheochromocytoma (Pheo). A recent literature review identified less than 100 cases described. We present a case of 28 years old woman who was referred for adrenalectomy for CS with notorious adrenal mass. However, during the investigation, ectopic ACTH due a Pheo was identified. Case Report: A 28-year-old woman required emergency care for ecchymosis and asymptomatic hypertension (BP: 230x130mmHg). Hyperpigmentation of the skin was evident on physical examination. Severe hypokalemia (K: 2.5mEq/liter) was detected. She denied taking any medication and was unaware of any previous illness. She always had normal BP measurements as well as laboratory tests. No family history of adrenal disease or secondary hypertension causes. During hospitalization, the hypothesis of CS was made and confirmed after: cortisol after 1mg dexamethasone: 44.5mcg/dl (<1.8mcg/dl) and 24h urinary free cortisol: 6228 mcg/dl (28-213mcg/dl). Concomitantly, a CT scan of the abdomen exhibited a left adrenal mass (3.1x2.8x3.5cm) of uncertain etiology and ACTH: 352pg/ml (<46pg/ml). Additionally, the patient presented hyperglycemia during hospitalization. After confirmation of the ACTH dependent CS, pituitary MRI was performed with normal results and a chest CT scan ruled out lung masses. As there was still no etiological confirmation and due to clinical deterioration, it was decided to start Ketoconazole 200mg/day, rising until 600mg and spironolactone with doses up to 250mg/day with a significant improvement in hypokalemia, decreased cortisol levels and optimal BP control. Due to the extremely high levels of ACTH and indeterminate adrenal mass, the hypothesis of ACTH ectopic due Pheo was postulated. Patient underwent abdomen MRI with left adrenal mass with hypersignal at T2 and urinary metanephrines levels: 6132mcg/24h (<289mcg/24h), urinary normetanephrines: 1808mcg/24h (<732mcg/24h). Once the diagnosis was elucidated, she received preoperative preparation with alpha blocker (Doxazosin) and underwent adrenalectomy without complications. After discharge, she received prednisone 10mg/day. The patient presented normalization of BP levels, as well as glycemic control with a slight improvement in skin hyperpigmentation. The pathology department confirmed Pheo and an ACTH expression was observed in immunohistochemistry. A genetic panel for Pheo is running with no results so far. Conclusion: Despite an extremely rare cause of CS, the ectopic production of ACTH by a Pheo has extremely high mortality rates, especially when not diagnosed or managed correctly. The clinicians must always remain alert and suspect this syndrome when the patient has a confirmed ACTH dependent CS associated with adrenal masses.
Introduction: Brazil is the fifth country with the highest number of diabetes cases in the world, which has been increasing significantly over the last 35 years. In Brazil, the prevalence of diabetes in 2019 was 16.8 million people, 21.8% of whom are elderly. Diabetes potentialize geriatric syndromes, such as frailty, a state of increased vulnerability to stressors and cumulative decline in multiple physiological systems over lifespan. Objective: To identify frailty in elderly patients with T2DM treated in a tertiary care outpatient clinic in the southeast of Brazil and to estimate their cognition. Methods: This is a cross-sectional analytical study. The patients were classified according to the five Fried frailty phenotype criteria: (1) unintentional weight loss ≥ 4.5 kg or 5% of body weight in the previous year; (2) exhaustion assessed by self-reported fatigue, indicated by two questions on the Center for Epidemiological Studies Depression Scale; (3) weakness measured with a dynamometer in the dominant hand and adjusted according to gender and body mass index (BMI); (4) low level of physical activity measured by weekly energy expenditure in kcal (based on self-reported activities and physical exercises); (5) slowness, according to the time spent walking 4.6 meters adjusted by gender and height. In addition, we also evaluated fasting plasma glucose (FPG), glycated hemoglobin (HbA1c), BMI, calf and waist circumference. To estimate the cognition, we used the 10-point cognitive screener (10-CS) to indicate temporal orientation, category fluency and words recall. Results: 50 elderly patients (39 women and 11 men) with mean age of 69.8 years were evaluated. The mean FPG levels was 168 ± 72 mg/dl and HbA1c > 7% was present in 82% of them. BMI ≥ 25 kg/m2 was observed in 40 patients (80%). All male patients have a normal calf circumference (> 34 cm) and 30/39 female patients (76.9%) have a normal calf circumference (> 33 cm). Waist circumferences ≥ 80 cm in women and ≥ 94 cm in men were present in 100% of women and 90.9% of men. Frailty was observed in 34% (n=17) and cognitive impairment in 40% (n=20) of the patients, according to the five Fried frailty phenotype criteria and CS-10, respectively. Conclusion: Early detection of frailty is very important for considering interventions aimed at elderly people. These interventions could reduce the functional decline and the risk of disability in these individuals over time and, besides that, are able to promote a better quality of life.
Background: The nuclear peroxisome proliferator-activated receptor gamma (PPAR-γ) plays a role in the regulation of glucose and lipid metabolism in adipocytes by regulating their differentiation, distribution and function. Heterogeneous mutations of PPAR-γ can cause loss of gene function or reduce its expression leading to a clinical variety of phenotypes that characterize type 3 familial partial lipodystrophy syndrome. The most common features of this syndrome are abnormal body fat accumulation, muscle hypertrophy, insulin resistance, hypertriglyceridemia, polycystic ovary syndrome and hepatic steatosis. Case report: A 32-year-old-woman was referred to the Endocrinology Division of PUC-SP for treatment of a severe hypertriglyceridemia diagnosed 4 years ago with recurrent episodes of acute pancreatitis and eruptive xanthomas since then. Also, diabetes mellitus (DM) was diagnosed 1 year ago with poor glycemic control. Her sister also had severe hypertriglyceridemia, recurrent episodes of acute pancreatitis and died in 2016. No DM was reported in her family. On physical examination, we found the presence of lipodystrophy, acanthosis nigricans on the neck and eruptive xanthomas on trunk, upper limbs, and thighs. BMI=24.9kg/m2; waist circumference=96cm. Abdominal CT scan revealed splenomegaly and fatty liver disease. Genetic sequencing showed a heterozygous (autosomal dominant inheritance) in the PPAR-γ of a Chr3 variant: 12.416.957 T> C (or alternatively c.1073T> C - ENST000002287820), promoting the substitution of leucine in codon 358 by proline (p.Leu358Pro). Conclusion: The substitution of the amino acid leucine in codon 358 for proline is highly conserved in several species, and computer programs for predicting in silico of pathogenicity, suggesting that this new heterozygous mutation in the PPAR-γ gene is probably related to the type 3 familial partial lipodystrophy syndrome. Disclosure P. V. Wanderley: None. J. C. Dias: None. M. W. Vieira: None. G. Garcia: None. I. T. Filho: None. R. F. Chamma: None. L. S. Gugoni: None. R. B. Giorgi: None. C. R. G. Barcellos: None.
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