Endocrine Abstracts

Background: Immune checkpoint (CTLA-4, PD-1) inhibitors are increasingly used to treat cancers including advanced melanoma. Although endocrine immune related adverse events (IRAEs) are now well reported, the frequency and type of thyroid and pituitary dysfunction reported varies considerably, with hypophysitis after CTLA-4 inhibitors reported in 2–16%, and thyroid dysfunction after PD-1 inhibitors in 2–39%. In addition, recove...

Section 1: Case history: A 30 year-old female patient with a background of symptomatic primary hyperparathyroidism diagnosed in 2008 and a history of two failed neck surgeries, was reviewed in clinic complaining of persistent symptoms of hypercalcaemia. Previous pre-operative neck imaging had failed to localise a parathyroid adenoma and the patient had undergone two neck explorations by an experienced ENT surgeon; one which removed thymic tissue and the other which removed a m...

Introduction: Thyrotoxicosis resistant to the usual treatment is rare, but potentially fatal. In such situations, the optimal next treatment is unclear. Iopanoic acid (IA) was historically used as an oral contrast agent; it’s capacity to treat thyrotoxicosis has been limited in recent years due to its restricted availability.Methods: Retrospective case note review of patients treated with IA for resistant thyrotoxicosis at our institution over the p...

Case history: A clinically euthyroid 7-year-old boy was noted to have a persistently elevated TSH 7.35–14 mU/l (NR 0.27–4.2) and normal FT4 15.0 pmol/l (NR 10-24) with negative anti-thyroid peroxidase antibodies. Thyroid ultrasonography revealed a eutopically-located thyroid gland of normal size. Following commencement of levothyroxine, he developed insomnia, irritability and headaches, resulting in cessation of treatment. Growth and development proceeded ...

Introduction: Familial dysalbuminemic hyperthyroxinemia (FDH) is characterized by artefactual hyperthyroxinemia caused by enhanced binding affinity of thyroxine to the mutant albumin. However little is known about how FDH affects the measurement of thyroid hormones, especially FT3, across many assay platforms.Methods: Forty-eight genetically confirmed FDH patients (R218H mutation) had FT4 and FT3 measured with 1-step (ADVIA CENTAUR®, Siem...

Introduction: We present a 5-year-old girl with thyroid hormone resistance, subsequently discovered to be heterozygous for TRβ mutation. This case highlights the necessity to investigate, in detail, all children with persistently high thyroxin with normal TSH levels in order to aid future management and the necessity to follow them up.Case report: SD was born at term by normal delivery weighing 3.34 kg (50th centile). She was referred at 6 months of...

Introduction: Biallelic mutations in the TSHB gene are a recognized cause of isolated congenital central hypothyroidism (CH), with autosomal recessive inheritance. In countries where neonatal CH screening relies on detection of an elevated TSH, such cases are missed, with the potential for delayed diagnosis and subsequent developmental impairment.Case: A female infant presented aged 8 weeks with prolonged jaundice, poor weight gain, constipation...

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Case report: Two of six children born to unrelated parents presented in the neonatal period with salt-losing CAH due to compound heterozygosity in CYP21A2 (maternal...

Background: Thyrotropinomas (TSHomas) are traditionally considered a rare albeit important cause of thyrotoxicosis, accounting for ∼1% of all pituitary adenomas. Although early case series reported a preponderance of macroadenomas, emerging evidence suggests microadenomas are being increasingly diagnosed. In addition, the clinical/biochemical phenotype appears to be more variable than previously suspected. We therefore examined the clinical, metabolic, biochemical and ra...

Resistance to thyroid hormone (RTH) is usually due to heterozygous mutations in THRB gene with rare cases being homozygous for receptor defects. We describe an RTH case due to a homozygous TRβ mutation (R243Q).The Proband (male, 8.4 years), was born at term with low birth weight (1.9 kg) to consanguineous parents. He has a prominent nasal bridge, goitre, low body weight (10th centile), recurrent tonsillitis, hyperactivity and has mild hearing impair...