Endocrine Abstracts

Next Generation Sequencing (NGS) is becoming widely used for genetic diagnosis. While its capacity for detection of human genetic variations (GV) is outstanding, drawbacks is the identification of numerous GV of which functional significance cannot be predicted in silico by computer programs (variants of uncertain significance, VUS). Currently, only sensitive (but also expensive and time-demanding) in vitro cell assays, can trustfully ascertain pathogenicity ...

Thyroid hormone (TH) synthesis requires iodine, a scarce element whose recycling is mediated by DEHAL1 through deiodination of iodotyrosines MIT and DIT. In humans, DEHAL1 defects lead to severe congenital hypothyroidism (CH) non-detected by neonatal screening programs, which involves the risk of mental retardation in infants. The timing for establishment of this hypothyroidism remains unknown, but environmental iodine deficiency may represent a triggering factor. Whi...

Purpose: Non-Obstructive Azoospermia (NOA), occurring in approximately 1% of men, has an unknown etiology in the majority of cases. This study aims at evaluating the diagnostic efficiency of a gene panel contemplating all known genes associated with azoospermia in mice.Subjects and methods: Design of a ‘mouse azoospermia’ gene panel through the consultation of MGI; selection of 175 mouse azoospermia genes with human orthologues; selection of 31...

Introduction: Bariatric surgery has important metabolic complications such as bone mass loss.Goal: To assess bone mineral density (BMD) after Roux-en-Y gastric by-pass (RYGB) in patients under standard calcium and vitamin D supplementation.Method: In patients with morbid obesity submitted to RYGB, we measured BMD with a dual X-ray densitometer. Using World Health Organization (WHO) criteria’s, values were compared with young c...

Introduction: There are a few hypothyroid patients who are refractory to standard thyroid hormone replacement treatment and require unexpectedly high doses of levothyroxine. In addition to clinical situations where hypothyroid patients are non-compliant (pseudomalbsortion), or where there is the possibility of excipient-induced disease exacerbation, therapeutic failure may be due to impaired absorption of the administered drug. The common approach to managing patients is to es...

Introduction and objectives: Metformin (MTF) is the most used oral antidiabetic drug for the treatment of type 2 diabetes (T2D). However, intolerance to drug is frequent and limits its use. There are controversies about the cause of this problem, the gut microbiota has been proposed to be responsible. The gradual introduction of MTF could exercise an adaptation of gut microbiota that would facilitate tolerance to MTF. In this study we evaluate the metabolic changes and gut mic...

Introduction: Thyroid nodules are very common in the general population (20–75% ultrasound). There are clinical management criteria established by international societies and standardized cytological diagnostic criteria (Bethesda). However, there is still uncertainty in the management of category 3 (follicular lesion of undetermined significance). Objectives: To evaluate the clinical attitude to the cytological diagnosis of Bethesda category 3 (B3) in thyroid fine-needle ...

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: CCHD comprises a number of different congenital heart defects associated with elevated pulmonary artery pressure and pulmonary vascular resistance, resulting in a reversed or bidirectional shunt (Eisenmenger syndrome). These entities develop systemic hypoxia. Pheochromocytoma and paraganglioma (PHEO/PG) are neuroendocrine tumours. Several inheritance genetic alterations have been reported in PHEO/PG syndromes. A pathogenic association between these entities is pr...

Introduction: Recent studies suggest that some patients initially diagnosed with congenital hypogonadotropic hypogonadism (CHH), may evolve towards a combined pituitary hormonal deficiency (CPHD). Heterozygous pathogenic CHD7 variants impair neural cell crest guidance causing CHARGE syndrome and have been associated with abnormal pituitary development/function/structure and isolated CHARGE features, including HH. We aimed to genotype CHD7 and phenotype thoroughly those adult p...