Endocrine Abstracts

Clinical case: A 51 year-old caucasian woman was admitted in the emergency room of our hospital with psicomotor agitation and confusion after four days of a profuse watery diarrhea, with 5 stools per day, abdominal cramps and vomiting. She started 500 mg of aspirin on her own initiative. Her medical profile included a type 2 diabetes treated with metformin 850 mg/12 hours and glyburide 7.5 mg/day, and hypertension treated with enalapril 20 mg/day. No renal imparement was docum...

Introduction: Paragangliomas/pheochromocytomas present frequently with vague symptomatology which makes its diagnosis difficult and challenging. Cuantification of fractionated metanephrines and fractionated catecholamines in 24 h urine sample are used for diagnosis. There are situationes that can produce false positive results such as stress, drugs or smoking that must be taken into account.Patients and methods: Retrospective study on the requests made f...

Objective: To describe the Carney Complex (CNC) manifestations presented by patients harboring the PRKAR1A mutation c.709(-7-2)del (one of the three hotspots) in a large cohort of patients.Methods: Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean ± standard deviation.Results: Forty patients [12 index cases, 27 females, 46±15 years o...

Introduction: Transsexuality is defined as discordance between one’s assigned sex at birth and that individual’s gender identity. Hormonal, anatomical, legal and psychosocial adaptations are present in most cases. Following recent changes to the Spanish legal framework, modifications have instaured to the model of attention for transsexual people in Andalusia. The aim of this study was to evaluate healthcare demand evolution in Trans People Attention Unit of Puerta...

Non alcoholic steatohepatitis (EHNA) is diagnosed by hepatic biopsy. Its etiology is uncertain but obesity is present in 69–100% of all cases and type 2 diabetes mellitus (DM) in about 34–75%.Objectives: To study the prevalence of EHNA in morbidly obese patients and determine if there is a difference between the prevalence in patients with and without carbohydrate metabolism disorders.Patients and methods: Prospective stu...

Background: Germ cell tumors (germinoma, teratoma, embryonal carcinoma, yolk sac tumor and choriocarcinoma) constitute 0.3–3.4% of all primary intracraneal tumors. Germinoma is the most common and of better prognosis.Aim: Describing the behaviour of germ cell tumors of the pituitary–hypothalamic region: location, clinical characteristics, diagnosis and follow-up.Material and methods: Review of medical records of patients ...

RP (a 60 yr-old male) was found to have multiple atrial myxomata, whilst being investigated for recurrent attacks of amaurosis fugax affecting his left eye. During the preceding twenty years he had undergone repeated resections of cutaneous tumours, which were reported as neurofibromata. A clinical diagnosis of Carney Complex (CNC) was made based on the presence of multiple cutaneous nodules and atrial myxomata. RP displayed mild acromegalic features, but no pigmentation abnor...

Introduction and Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare disease caused by a mutation in the ABCD1 gene (Xq28). It is characterized by the absence of very long-chain fatty acids (VLCFAs) degradation, leading to their accumulation primarily in the central and peripheral nervous system, adrenal cortex, and gonads. It presents a variable clinical spectrum and prognosis. The aim of our study is to describe the characteristics of all X-ALD patients under follow-u...

Introduction: 177Lu-Oxodotreotide(PRRT-Lu) has the approval by EMA and FDA since 2017 for the treatment of patients with gastro-entero-pancreatic neuroendocrine tumors(GEP-NET). However, in daily clinical practice it has also been used in other NET tumors such as paragangliomas, lung NET, medullary thyroid cancer, and others. The aim of this study is to describe the characteristics and follow-up of patients treated with PRRT-Lu in a third level hospital in Spain fro...

Introduction: The NETTER 1 trial resulted in markedly longer progression-free survival (PFS), with preliminary evidence of an overall survival benefit. We report the results of PFS and safety of (177Lu)-DOTATATE in patients treated in our hospital between 2014 and 2016.Methods: Transversal and descriptive study of seven patients with advanced, progressive, somatostatin receptor-positive tumors who had received previous treatments. All of them were treate...