Endocrine Abstracts

Normal functioning of the thyroid is of profound importance for lifetime health due to its role in hormone production. Dysfunction of the thyroid is associated with severe congenital pathologies, some of them appearing in childhood. For example, over half the babies born with congenital hypothyroidism appear completely normal and without symptoms. However, early diagnosis of thyroid defects is lacking mainly due to a poor understanding of the development of the tissue in utero...

Introduction: Congenital hypothyroidism is caused by abnormal development or function of the thyroid gland. Early detection through heel prick screening and treatment prevents irreversible adverse neuro developmental outcome. The national screening program for congenital hypothyroidism in the UK has extremely low false positive rates. We describe 4 siblings with falsely raised TSH related to maternally transmitted macroTSH.Case s...

Introduction: Isolated congenital central hypothyroidism (CeCH) is a rare entity associated with mutations in IGSF1, TSHB, TRHR, or the coding region of TBL1X. We describe a female with CeCH and extrathyroidal features due to a partial X-chromosomal deletion involving TBL1X and other genes. Further studies showed markedly reduced TBL1X expression in patient-derived leukocytes and enabled linkage of particular clinical phenotypes to ...

Normal functioning of the thyroid is of profound importance for lifetime health due to its role in hormone production. Dysfunction of the thyroid is associated with severe congenital pathologies, some of them appearing in childhood. For example, over half the babies born with congenital hypothyroidism appear completely normal and have no symptoms. However, early diagnosis of thyroid defects is lacking mainly due to a poor understanding of the development of the tissue in utero...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

Background: Hyperthyroxinaemia with non-suppressed TSH, due to resistance to thyroid hormone (RTH) or TSH-secreting pituitary tumour (TSHoma), can be difficult to diagnose, particularly with coincident autoimmune thyroid disease (AITD).Methods: To determine presentation patterns of AITD coincident with RTH or TSHoma, we analysed our cohort of cases with dual diagnoses.Results: Nine patients with RTH had AITD. Six had Graves’ d...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

Introduction: Paired box gene 8 (PAX8) is a key transcription factor required both for normal fetal thyroid development and maintenance of the differentiated thyroid phenotype, mediating transcriptional activation of SLC5A5, TG, and TPO, and synergizing with NKX2-1 at the TG promoter. Heterozygous PAX8 mutations are a rare but well-recognized cause of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD), and are classically associated with thyroid hypoplasia. However,...

Introduction: Thyroid function tests are frequently undertaken in children with non-specific symptoms suggestive of thyroid dysfunction. Infrequently, susceptibility of automated thyroid hormone assays to interference may generate misleading results, with the potential for inappropriate diagnosis and management. We report an unusual case with apparent subclinical hyperthyroidism, due to negative interference in particular TSH assay platforms, with an underlying genetic basis.<...

Context: Surgery is the first-line treatment option for thyrotropinomas, but medical therapy with somatostatin receptor ligands (SRL) may be used as neoadjuvant treatment and to facilitate safe surgery.Objectives: To determine the extent to which neoadjuvant SRL (i) corrects clinical, laboratory and tissue hyperthyroidism in thyrotropinomas, (ii) induces tumour shrinkage in macroadenomas, and (iii) aids microadenoma detection by 11C-methionine...