Endocrine Abstracts

Objective: Beta thalassemia is associated with a number of endocrinopathies. Iron overload is thought to be at the root of thalassemia-related endocrinopathies, including hypothyroidism; however, morphologic changes that could be attributable to iron deposition in the thyroid gland have been under investigated. This study aims to evaluate thyroid gland volumes and stiffness in thalassemia patients using shear-wave ultrasound elastography (SWE), and to analyze if there is any r...

Introduction: Less than 20% of congenital hypothyroidism (CH) has a known genetic aetiology; thyroid transcription factor mutations (PAX8, Nkx2.1, Nkx2.5, FOXE1) or biallelic TSHR mutations cause <5% of thyroid dysgenesis (TD), whereas mutations in genes mediating thyroid hormone biosynthesis (TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5, SLC26A4) account for most dyshormonogenesis cases. Increased CH frequency in consanguineous populations, relatives of ...

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...

Objective: To describe the phenotypic and molecular characteristics of familial thyroid dyshormonogenesis (FTDH) in the Tunisian population.Patients and Methods: A retrospective descriptive study including two related (R and K) with high consanguinity whose members are carriers of FTDH. Biological and genetic screening was proposed for all consenting members.Results: FTDH was identified in 11 patients (8 girls, 3 boys) with a mean ...