Endocrine Abstracts

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by target-organ resistance to the action of PTH, manifesting with hypocalcemia, hyperphosphatemia, and increased serum concentrations of PTH. PTH receptor couples with the stimulatory G protein (Gsα), leading to cAMP formation. Most cases of PHP are caused by heterozygous inactivating mutations in the GNAS gene, encoding Gs〈 (PHP type 1A) or methylatio...

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital disease caused by deficiency or action of gonadotropin-releasing hormone. While generally considered a long-life condition, IHH can be reversible in about 20-30% of cases, but mechanisms of reversibility are unknown. We report the case of a male with IHH who began treatment with low dose (20 mg/day) transdermal testosterone to induce pubertal development at age 18. Following the start of treatment, he experien...

Premature Ovarian Insufficiency (POI) is defined as impairement of ovarian function in women under 40 years, with a incidence between 1-4% in women of reproductive age. Among the major identified causes of Premature Ovarian Insufficiency, genetic factors related with X-chromosome are widely described. However, autosome defects are less common found and are related generally with genetic mutations instead of structural abnormalities of them. Thefor, we report a relevant case of...

Background and aim: Dual energy X-ray absorptiometry (DXA) is considered the gold standard to evaluate BC, even if it requires the use of radiations, an expensive equipment and cannot be performed at the patient’s bedside. Nutritional ultrasound (NU) evaluates BC through the assessment of muscle mass and the abdominal subcutaneous (superficial and deep-layer) and visceral adipose tissue. We aimed at comparing the accuracy and reliability of this emerging tool with DXA in ...

Introduction: Overt hypothyroidism is associated with diastolic hypertension, but in subclinical hypothyroidism, data are inconclusive. HS tiroxina is a double-blind trial evaluating the effect of levothyroxine on blood pressure in patients with mild SH (TSH 5.0–9.9 mU/l and normal free T4) and moderate-to-high cardiovascular risk.Methods: We analized baseline data of the first 46 patients screened. Confirmatory thyroid function tests wer...

Introduction: Most of pheochromocytomas (PCC) and paragangliomas (PGL) are sporadic. However, up to 40% of them have an inherited origin due to germline mutations in at least 15 known PCC/PGL genes, being the VHL and SDHx genes the ones most frequently affected. The fumarate hydratase (FH) is a Kreb’s cycle enzyme encoded by the FH gene.Its inactivating mutations increase intracellular levels of fumarate, leading to tissular pseudohypoxia and transcription of genes involv...

Introduction: Fine needle aspiration biopsy (FNAB) is the mainstay diagnostic procedure for evaluation of thyroid nodules, but it doesn’t permit to distinguish between benign and malignant follicular lesions (category IV in the Bethesda Cytopathology System). Some reports have suggested an association between increased serum levels of TSH and thyroid cancer. However, the specific relationship between TSH and malignancy has been scarcely studied in follicu...

Introduction: The thyroid-related quality-of-life patient-reported outcome ThyPRO questionnaire is the most widely used tool for measuring health-related quality of life (QoL) in patients with benign thyroid diseases. The aim of this study was to adapt and validate a Spanish version of the ThyPRO.Methods: The ThyPRO consists of 85 items, grouped in 13 scales and one single QoL item. Scales cover physical and mental symptoms, well-being and function, soci...