Endocrine Abstracts

Introduction: Obstructive sleep apnea-hypopnea syndrome (OSAHS) and obesity are two pathologies increasingly prevalent in population related to each other. Obesity is present in between 60-90% of patients diagnosed with OSAHS being the most important modifiable risk factor. Obesity influences the risk factor for OSAHS degree of severity, increasing its severity by up to 30%. The degree of relation between both pathologies, we created a protocol Endocrinology and Pneumology ser...

Introduction: Paragangliomas are rare tumors originated from extraadrenals chromaffin cells. Most are sporadic, but between 30% and 50% are associated with hereditary syndromes. Mutations in the succinate gene dehydrogenase (SDH) have been identified as a cause of the hereditary paraganglioma-pheochromocytoma syndrome.Material and methods: Descriptive study of case series of patients belonging to the Southern Health Area of Seville with mutations in the ...

IntroductionMixed neuroendocrine-non-neuroendocrine neoplasms (MiNEN) of the pancreas are composed of two morphologically different components, each representing at least 30% of the tumor: ductal or acinar adenocarcinoma and neuroendocrine neoplasm (NEN). They are extremely rare tumors whose etiopathogenesis and biological behavior are not fully understood. Given its rarity, we describe a case of insulinoma in the context of MiNEN....

Multiple endocrine neoplasia type 1 (MEN-1) is characterized by an increased predisposition to the development of tumors of the endocrine tissues, such as parathyroid glands, anterior pituitary, and duodenopancreatic neuroendocrine tumors. It is an autosomal dominant disorder due to germline mutations in the MEN-1 tumor suppressor gene. This gene encodes the menin protein, which is involved in cell growth and differentiation, and in sensing or repairing DNA damage. We present ...

Introduction: A third of pituitary adenomas are non-functioning. Classification depends on adenohypophyseal hormones expression and transcription factors.Aim: Characterize silent pituitary macroadenomas cases regarding their clinical data, treatment, histopathology and prognosis.Methods: We revised clinical process of patients followed in CHULC. Cases with non-access to clinical follow-up registries or exams were excluded.<p cl...

Primary amenorrhea is characterized by the absence of menstruation after the age of 14 without the development of secondary sexual characteristics or after the age of 16 with the development of these. Hypogonadotropic hypogonadism (HH) corresponds to an uncommon etiology of primary amenorrhea. In HH, the differential diagnosis includes Kallmann Syndrome, isolated hypogonadotropic hypogonadism and CHARGE Syndrome. The CHARGE syndrome corresponds to an extremely rare syndrome, w...

Extraadrenal paraganglioma is a rare tumor. The clinical and pathological findings of patients with abdominal localization paragangliomas (perihepatic, paraaortic, interaortocaval and retroperitoneal) are described. Its characteristics and diagnostic imaging are analyzed, as well as its therapeutic management. Between January 2021 and January 2022, 3 patients with extra-adrenal paragangliomas were diagnosed, all of them women. The age of our patients was 26, 57 and 67 years. T...

A 47-year-old male with a history of severe persistent asthma and recurrent respiratory infections with admissions to the Pulmonology Department. The patient underwent a study due to weight loss, diarrhoea and Ca 19.9 elevation. Imaging tests (abdominal CT and MRI cholangio) were performed, which highlighted severe pancreatic fat infiltration. The cystic fibrosis study was completed with genetics (positive: two heterozygous switches F508del and D1152H), sweat test (45 mmol/l -...

Gas chromatography–mass spectrometry (GC–MS) has been used for urinary steroid analysis for over 50 years. The process of hydrolysis to release steroids from their conjugates is routinely performed using commercially available snail Helix-Pomatia sulfatase (HP). However, as this is a naturally occurring enzyme its production process results in batch variation and so each batch requires experimental validation to adjust for the difference in efficiency of the enzymati...

Objective: Vitamin D deficiency has been related to extraskeletal manifestations such as insulin resistance, type 2 diabetes mellitus (DM) and obesity. The objective of this study was to assess the prevalence of vitamin D insufficiency and deficiency in a population of patients with prediabetes and with type 2 DM already established, and to see if there were differences according to different parameters.Material and methods: Cross-sectional study, in whi...