Endocrine Abstracts

According to the World Health Organization, obesity is one of the most important public health challenges of the 21st Century. There is no doubt that excessive calories intake and lack of exercise, are important factors, and that genetics plays a critical role. However, because genes in the population do not change fast enough, other causes must be involved. The involvement of other causes in the etiology of obesity is further strengthened by the fact that obesity is increasin...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...

Background: Subacute thyroiditis is an inflammatory condition, most likely of viral origin, which typically presents wit low anterior neck pain, fever and transient thyrotoxicosis. Ultrasonography (US) usually shows a diffuse thyroid enlargement with ill-defined hypoechoic areas.Case: A 55-year old women was admitted in the emergency room, with 2 weeks of anterior neck pain, cervical compressive symptoms of dysphagia, fever and palpitations. On physical ...

Introduction: The recognition of thyroid microcarcinoma has been increasing in recent years probably as a result of the widespread use of ultrasound-guided fine-needle aspiration biopsies (FNAB) of small non palpable nodules and possibly of a more extensive histological examination.Objectives: To describe clinical and histological characteristics of papillary thyroid microcarcinoma and compare them according to its size (< or ≥5 mm).<p clas...

Introduction: Anti-Müllerian Hormone (AMH) is a useful marker of ovarian reserve (OR), since it remains stable inter/intra-cycles and presents a good correlation with ultrasonographic antral follicular count. Obesity/overweight are increasing and may affect the reproductive health. However, previous studies regarding the effect of body mass index (BMI) on AMH levels are discordant. Our main goal was to evaluate the influence of BMI in AMH levels in women with infertility....

Introduction: Grave´s disease (GD) is the most prevalent cause of hyperthyroidism, leading to inflammation of the thyroid gland and sometimes to an enlargement of the nearest lymph nodes caused by that same inflammatory process. Peripheral lymphadenopathy of doubtful cause presents a diagnostic dilemma. There are many potential causes: biopsy is sometimes the best way to reach a definitive diagnosis. Tuberculous adenitis is usually regional and mainly affects nodes of the...

IntroductionFollicular thyroid carcinoma (FTC) has metastasis in 10-15%; papillary thyroid carcinoma (PTC) rarely metastasizes. Bone metastasis are rare and can cause pain, fractures and spinal cord compression.Case-172 year-old male referred to the hospital with lower back pain. Imaging examination revealed lytic lumbar lesions. Thoracic-abdominal-pelvic-CT showed trachea compression by a multinodular right ...

Introduction: Adrenal insufficiency (AI) is a rare and potentially life-threatening disease. The most common causes are primary adrenal insufficiency (Addison’s Disease), due to an adrenocortical disease, and secondary insufficiency, due to disorders of the pituitary gland. Chronic glucocorticoid replacement is vital and patients should be educated about how to act in acute stress situations, in order to avoid adrenal crisis. Taking this into account, we organized educati...

Introduction: Graves’ disease (GD) hyperthyroidism is caused by autoantibodies against TSH receptor (TRAb). Three varieties of TRAb are now recognized: stimulating (TSI), blocking and neutral antibodies. Current TRAb immunoassays detect and quantify serum immunoglobulins that interact with the TSH receptor but without discriminating their function. An automated immunoassay for the detection and quantification of TSI is available.Objective: Our study...

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common causes of anovulatory infertility. Polymorphisms in genes related to follicular recruitment and development, such as the follicle-stimulating hormone receptor (FSHR) and the oestrogen receptor 1 (ESR1) genes, and their impact on biochemical phenotype and response to controlled ovarian stimulation in women with PCOS have been studied in different populations, with inconsistent results.<p class="abstext...