Endocrine Abstracts

Background: Acute intermittent porphyria (AIP) is an inherited autosomal dominant disorder characterized by hepatic deficiency of hydroxymethylbilane synthase (HMBS)/porphobilinogen deaminase (PBGD), the third enzyme of the heme synthesis pathway. Hyponatremia is one of the main presenting symptoms and it is thought to be related to an inadequate secretion of ADH (SIADH). Since AIP is an uncommon disease, there is little information about how AIP related hyponatremia responds ...

Introduction: The diagnostic accuracy of fine needle aspiration (FNA) in case of medullary thyroid cancer (MTC) has been less studied than in other thyroid cancers. The complementary measurement of calcitonin in the needle washout fluid after FNA (FNA-Ct) could improve the usefulness of this technique.Materials and Methods: Description of two cases of patients with thyroid nodules suspicious for MTC in whom FNA-Ct was measured as a complementary diagnost...

Introduction: Maternally inherited diabetes and deafness (MIDD) that is caused by a pathogenic variant in mitochondrial DNA (mtDNA) can cause different phenotypes based on percent heteroplasmy load, with higher mutation load corresponding with disease severity. The m.A3243G mutation causes either classic MELAS or MIDD that is a partial form. The condition is characterised by diabetes, hearing impairment and maculopathy but can have several other clinical manifestations. Early ...

Objective: To determine if an extended lateral approach to trans-sphenoidal surgery (TSS), guided by 11C-Methionine PET/CT co-registered with volumetric MRI (Met-PET/MRCR), can lead to remission in patients with persistent acromegaly due to post-operative lateral/para-sellar tumour remnants.Methods: We identified eight patients with persistent acromegaly following primary intervention [TSS ± medical therapy ± radiotherapy ...

Introduction: Treatment of hypothyroidism with levothyroxine is effective and simple; however, international guidelines advise starting with low doses in case of severe hypothyroidism, cardiac illness and aged population. Interestingly, and in contradiction to this dogma, high doses of levothyroxine have been given to patients with myxedema coma without untoward effects. The difference between myxedema coma, which deserves an intensive treatment, and longstanding severe hypoth...

Introduction: Hydroxymethylglutaric aciduria is a rare metabolic disease that is caused by the deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which participates in the metabolism of leucine and in the formation of ketone bodies. The symptomatology usually occurs in the first two years of life and consists of nausea, vomiting, diarrhea, hypotoniaanddepressed level of consciousness. Metabolic acidosis occurs during crises as a result of the accumulation of metabo...

Introduction: Recently, PCSK9 inhibitors have been approved in our country for familial hypercholesterolemia and for patients with cardiovascular diseases. They are still scarce data in real life patients effects.Objective: Analyse the features of first patients treated with PCSK9 inhibitors in a specific unit of familial dyslipidemia and the effect on lipid profile and other clinical variables.Material and methods: Data from patie...

Introduction: Langerhans cell histiocytosis (LCH) is a rare systemic disease. Diabetes insipidus is the most frequent endocrine alteration and occurs mostly after diagnosis. Others are hypogonadism, growth hormone deficiency (GHD) and alterations in glucose metabolism.Clinical case: A 61-year-old smoker, diagnosed with LCH 9 years ago with pulmonary and hepatic involvement, without treatment, who consulted for asthenia, unquantifiable polyuria, polydipsi...

Objetive: Obesity is associated with lower serum vitamin D (25(OH)D3) levels through several mechanisms. The aim of the study was to determine the prevalence of vitamin D deficiency and to examine the association between insulin resistance and 25(OH)D3 levels in a cohort of obese subjects.Materials and methods: 85 obese subjects were enrolled into the study from october to december 2018. Demographic, anthropometric and clinical para...

Introduction: While iatrogenic Cushing’s syndrome is common, acquired isolated ACTH deficiency is a rare condition. Hypophysitis is the most common cause, and while most recently published cases are associated with immunotherapy, it may also be idiopathic. Hereby we present a case of cortical adrenal atrophy secondary to idiopathic acquired ACTH deficiency, in order to raise awareness about this condition.Material and Methods: Review of the patient&...