Endocrine Abstracts

Introduction: The height growth is regulated by multiple factors, including specific genetic mutations that ensure correct differentiation and proliferation of chondrocytes. We present a case of double association of haploinsufficiency of the SHOX gene with a mosaic 45,X/46,X,r(Y) karyotype responsible for growth and pubertal delay.Case: Male patient, observed in endocrinology consultation at age of 12, with constitutional delay of grow...

Introduction: Klinefelter syndrome (KS) is characterized by the presence of supernumerary X-chromosome and thus a 47,XXY karyotype. This syndrome remains underdiagnosed, with only about 25% of patients being identified, and only 10% during childhood.Methods: Retrospective analysis of 11 KS patients followed-up in the Endocrinology Department of Coimbra’s Hospital and Universitary Center. The registered data included education and occupation, time an...

Introduction: Hypocalcaemia is present in half of the patients with 22q11.2 deletion syndrome (DiGeorge-velocardiofacial syndrome). Most of these cases are diagnosed during childhood.Case report: A 56-year-old man was evaluated for symptomatic hypocalcaemia after undergoing a left nephrectomy because of renal tumour. He had paraesthesia around his mouth and hands and Trousseau’s sign. His past medical history included high blood pressure, type 2 dia...

Introduction: Definitive diagnosis of lymphocytic hypophisitis (LH) lacks a pathological analysis. The detection of pituitary antibodies (PAB) with the current methods presents variable results and its clinical utility is therefore limited. Recently, new methods were released for the interpretation of indirect immunofluorescence (IIF), which can increase the specificity for detection of PAB.Methods: We evaluated four patients followed in endocrinology co...

Introduction: Pituicytoma is a low-grade glioma of the suprasellar and sellar regions that is rarely described (about 60 cases in the literature). The clinical, laboratory, and neuroradiological findings are not pathognomonic, and therefore definitive diagnosis is only possible after surgery and histopathological study. Total resection is the treatment of choice, since subtotal removal can often lead to recurrence or progression.Case report: We report th...

Aims: To study if BRAF V600E mutation in thyroid fine needle aspiration (FNA) is associated with specific ultrasound (US) characteristics.Patients and methods: From 2010 to 2014 we reviewed patients with thyroid nodules with the following inclusion criteria: US guided FNA of the nodule and molecular testing for BRAF V600E on the FNA. BRAF mutation was detected using fluorescence melting curve. An expert on US, blinded to the BRAF status reviewed US exami...

Introduction: Chronic lymphocytic thyroiditis (LT) is a very common condition, and its coexistence with papillary thyroid carcinoma has often been reported. Analytical and echographic challenges must be kept in mind in the follow-up of patients with both these disorders.Case report:: We present the case of a woman with a history of multinodular goitre who underwent left thyroidectomy and isthmectomy at the age of 43, with the histopathological finding of...

Introduction: Langerhan Cells Histiocytosis (LCH) is a rare heterogeneous idiopathic clinical entity involving clonal proliferation of Langerhan cells that may infiltrate most commonly bone, skin, lymph nodes or lungs. It affects mainly children between 5 and 15 years. The most common endocrine manifestation is diabetes insipida.Clinical case: The authors describe a case of a 19-year-old female patient, admitted in the Transition Follow-up of the Endocri...

Prevalence of hyperandrogenism (HA) and polycystic ovary syndrome (PCOS) in female to male transsexuals (FMT) is controversial. To known the prevalence of hyperandrogenism and PCOS in FMT, and their relation with insulin resistance (IR) and other cardiovascular risk factors (CVRF), we studied 77 Spanish consecutive FMT cases, the first ones who appeared in our Gender Unit between May 2007 and Dec 2008, aged 18–43 years. The subjects had never received hormonal treatment o...

Introduction: Insulin autoimmune syndrome or Hirata disease is a rare cause of hypoglycemia without prior insulin exposure. Approximately 400 cases were reported, mostly in Japan. It’s associated with other autoimmune diseases or exposure to sulfhydryl-containing drugs.Case report: A 56-year-old Caucasian woman presented with a 20-month history of hypoglycemia ameliorated by sugar intake. She had a past history of autoimmune thyroiditis, asthma and ...