Endocrine Abstracts

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: 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...

Introduction: Diabetic nephropathy is the main global cause of end stage renal disease. According to the annual report from the Portuguese National Diabetes Observatory, in 2013, the prevalence of diabetes mellitus (DM) in new cases of chronic kidney disease was 31.2 and 11.1% in kidney transplant patients.Aim: To characterise the population of type 2 diabetic patients admitted in diabetes and kidney transplant consult (DKTC), comparing those admitted be...

Introduction: Pseudohypoparathyroidism is a heterogeneous disease characterized by hypocalcemia, hyperphosphatemia and parathyroid hormone resistance. The distinct pseudohypoparathyroidism types are distinguished by physical features, the coexistence of other hormone resistances and genetic defects. Pseudohypoparathyroidism type Ib is more often associated with sporadic cases, unlike others types.Clinical Case: Male, born in France, diagnosed with pseudo...

Introduction: The prevalence of palpable nodules varies between 3–7% and nodules diagnosed by ultrasonography between 20–76%. According to the American Thyroid Association’s guidelines it isn’t recommended to perform routine thyroid ultrasound for thyroid nodules diagnosis, unless they are palpable or there are any risk factors.Objective: Evaluation of sonographic and cytological differences between palpable and non-palpable thyroid n...

Introduction: Kallmann Syndrome (KS) consists of hypogonadotropic hypogonadism and anosmia, and is 5 fold more prevalent in males. There is a considerable clinical and genetic heterogeneity and a crescent interest in autosomal genes. The FGFR1 gene, located on the short arm of chromossome 8, encodes a glycoprotein fibroblast growth factor receptor and FGFR1 mutations has been identified in 10% of KS patients. The clinical picture include typical KS and associated features....

Introduction: Adrenal insufficiency is a life-threatening disease caused by primary adrenal failure or secondary adrenal failure due to an impairment of hypothalamic-pituitary axis that affects adrenal cortisol synthesis. It is characterized by deficient production of glucocorticoids and may be associated with mineralocorticoid and androgens deficiency. Prompt diagnosis and management are essential and may even be life-saving.Methods: We retrospectively ...

Introduction: The aging population brought new challenges in several diseases. Pituitary tumors are usually not related with elderly, although the rise in life expectancy has allowed its diagnosis in unusual age groups.Aim: To describe the pituitary tumors diagnosed in patients with age ≥ 80 yearsMethods: Retrospective observational study which included 23 patients with pituitary tumors with age ≥ 80 years observed in c...

Introduction: Turner syndrome (TS) is one of the most common chromosomal abnormalities, characterized by systemic involvement and susceptibility to some disorders that begin or progress in adult life. These lead to an increase in morbidity and mortality and a decrease in quality of life. The aim of this study was to analyse the profile of women with TS, who are currently followed in endocrinology, regarding: karyotype, age, final height and weight, puberty and fertility, and m...

Introduction: Spontaneous fertility in Turner syndrome (TS) is rare, due to low or absent ovarian reserve. A greater number of ovarian follicules is present in the cases of gonadal mosaicism, although the accelerated pace of apoptosis remains. Thus, the early referral to reproductive counseling is advisable, ideally soon after diagnosis. The criopreservation of oocytes is one of the options for fertility preservation. The authors present a series of 7 patients with TS admitted...