Endocrine Abstracts

Introduction: Fine-needle aspiration cytology (FNAC) of thyroid nodules can be associated with non-diagnostic (ND) results, despite the usage of ultrasound (US) guidance. It is recommended to repeat the FNAC because of the possible risk of malignancy in these nodules.Aim: To evaluate the influence of demographic, clinical and echographic characteristics in the recurrence of ND FNAC in a thyroid nodule.Methods: Retrospective review ...

Background: Chordomas are rare, invasive and slow growing bone tumours with different locations. Parasellar chordomas are even more rare and the initial manifestations include visual and/or neurological symptoms. In addition, endocrine dysfunction may be present. We describe 4 cases of parasellar chordomas.Clinical cases: 1) Female, 55-years-old, reported headache associated with restriction of left eye movement for the past 3 months. Brain magnetic reso...

Acromegaly is a rare condition and is frequently associated with infertility. There are very few reported cases of pregnancy in these patients, particularly after surgery and radiosurgery. This is a case of a 29-year-old woman with a 1-year history of nasal obstruction, headache and amenorrhea. She was mother of a 5-year-old child and was trying to get pregnant again, unsuccessfully. Clinical examination revealed coarsening of the facial features, hand and feet enlargement, hy...

Introduction: Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. It is the most common syndromic form of obesity, with an estimated prevalence of about 1 in 25,000 individuals.Case report: we report the case of two monozygotic twins, 20-year-old, naturally conceived, both affected by PWS. They were born by eutocic delivery at 34 weeks of gestati...

Background: Bilateral adrenal haemorrhage (Waterhouse–Friderichsen syndrome) is a rare consequence of sepsis (usually a result of meningococcal infection), with an estimated 15% mortality. Despite the predominant association with meningococcal infection, there are other recognised aetiologies: sepsis resulting from other organisms, and non-infectious causes, such as anticoagulant treatment, trauma and postoperative adrenal haemorrhage.Case report: A...

The Sodium Iodide Symporter (NIS) is responsible for active transport of iodide into thyroid cells. Its expression in thyroid tumors allows the use of radioactive iodine (131I) as co-adjuvant therapeutic tool to eliminate remaining tumor cells and metastases after total thyroidectomy. Nevertheless, certain subsets of patients with advanced forms of thyroid cancer lose the ability to respond to radioiodine therapy, which drastically reduces their survival rates. Recent studies ...

Introduction: Male hypogonadism is defined by lower levels of testosterone than expected for age-matched individuals. In primary or hypergonadotropic hypogonadism, LH and FSH show a compensatory elevation to low testosterone levels, while in the secondary or hypogonadotropic hypogonadism the low testosterone levels are a result of insufficient gonadotropin levels. Hyperprolactinemia is a cause of hypogonadotropic hypogonadism. It is not only caused by lactotroph adenomas (prol...

Introduction: Almost all type 1 diabetes mellitus (T1DM) patients have autoantibodies (ab) at disease onset. These ab prevalence varies according to patients’ age, origin and disease duration.Aim: Determine diabetes mellitus ab prevalence in a paediatric and adult T1DM Portuguese according to their age on diagnosis, gender and diabetes duration.Methods: Retrospective review of T1DM ab (glutamic acid decarboxylase 65 autoantibo...

Introduction: Clinically non-functioning pituitary tumors (NFPTs) lack clinical or biochemical evidence of pituitary hormone excess. Their clinical presentation is heterogeneous, including mass effect-related symptoms and/or hypopituitarism, or even no symptoms in incidentally-detected NFPTs. We aimed to evaluate the clinical presentation spectrum of NFPTs in a cohort of patients managed at our hospital.Methods: Clinical, demographic, biochemical and ima...

Introduction: The glycogen storage disease (GSD) is a rare disorder of carbohydrate metabolism resulting from the defective synthesis and utilization of glycogen. GSD-1a is a subtype of GSD caused by a deficiency in glucose-6-phosphatase activity, which leads to decreased conversion of glucose-6-phosphate to glucose. The dominant features at presentation are hypoglycemia and lactic acidemia. Long-term complications include blood glucose lability, lactic acidemia, short stature...