Endocrine Abstracts

There are a range of screening and diagnostic tests for the investigation of short stature, some of which are unpleasant and even dangerous for the patient. Growth hormone (GH) heterogeneity and wide assay biases cause additional complications for interpretation of results. We have used questionnaires to assess protocols and practice in the investigation of short stature by paediatricians and clinical biochemists in Wales.Responses from laboratory staff ...

Introduction: The presence of thyroid peroxidase (TPO) antibodies in euthyroid children poses a potential risk for the development of autoimmune hypothyroidism. Little is known about the ontogeny of this process. This retrospective study aims to estimate the risk of developing hypothyroidism in euthyroid children with raised TPO antibodies and provide a guideline for follow up.Methods: Children 0–16 years with raised TPO antibodies (1996–2005) ...

Graves' disease (GD) is caused by thyroid stimulating antibodies (TSAb) which are thyrotropin (TSH) agonists. Thyroid peroxidase (TPO) antibodies, although markers of thyroid auto-immunity are not involved in the pathogenesis of GD. Despite this, TPO antibodies are frequently used to establish the etiology of thyrotoxicosis. It was our aim to compare TPO antibodies with TSAb in a cohort of thyrotoxic patients to determine whether TPO antibodies and TSAb could be regarded as eq...

Objectives: Autoimmune diseases are typically studied with a focus on the immune system, and less attention is paid to responses of target tissues exposed to the immune assault. We aimed to evaluate, based on available bulk RNA sequencing data, whether inflammation induces similar molecular signatures in the target tissues of five autoimmune diseases, namely type 1 diabetes (T1D), Hashimoto’s thyroiditis (HT), rheumatoid arthritis (RA), multiple sclerosis (MS) and systemi...

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection and treatment by neonatal screening and administration of T4, is essential to prevent severe mental retardation and impaired growth.We report on two Welsh siblings, detected by neonatal screening, which had normal sized and placed glands but negative isotope uptake. Mutations resulting in CH are known to occur in 11 known genes, given the clinical presentation, we investigated the...

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection by neonatal screening and T4 administration is essential to prevent severe mental retardation and impaired growth. About one third of CH is due to mutations in known genes including the thyrotropin receptor (TSHR).Two Welsh male siblings with CH were detected, both had normally sized and located thyroid glands, no iodide uptake and were negative for thyroid bloc...