Endocrine Abstracts

Aim: To evaluate current practices relating to diagnosis and treatment of congenital hypothyroidism (CHT) in Aneurin Bevan University Health Board (ABUHB) compared to national guidelines and the use of radioisotope scanning in improving etiological diagnosis.Method: This service evaluation used a database of paediatric hypothyroid patients in ABUHB. Only children with CHT were included and any children born before January 2014 were excluded. 30 children ...

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

Hypothyroidism is a well-known cause of delayed puberty in children. But in rare instances, hypothyroidism can also be related to isolated menarche. The mechanism remains debatable whilst the overall incidence of the condition remains unknown.Case Report: 6-year girl presented to children’s emergency with 2 days history of vaginal bleeding. Mum reported her being intolerant to cold, constipated and faltering growth compared to her twin sister. Her s...

We present an unusual case of encephalopathy. Paramedics were called to a 13 year old boy with acute confusion, agitation and incoherent speech. Subsequently he reported he had arm twitching and transient episodes of loss of consciousness for the preceding two weeks with increased thirst and lethargy over the preceding year. He had also progressed rapidly through puberty in the year prior. On presentation his parents denied any infective symptoms or likelihood of substance mis...

Thyroid hormone resistance is a rare condition, caused by mutations of the thyroid hormone receptor beta (THRB) gene, inherited in an autosomal dominant manner. This results in decreased tissue sensitivity to thyroid hormone action, the hall mark is high FT4 levels with normal TSH levels. The clinical presentation is variable. We discuss 2 cases of thyroid hormone resistance who received Carbimazole treatment. Case 1 is an 8 year old girl, who was initially misdiagnosed as hyp...

The PTEN gene is a tumour suppressor gene with high risk of breast, thyroid, endometrial, colorectal, kidney tumours and melanoma, mucocutaneous lesions, macular pigmentation, and macrocephaly. Germ line heterozygous pathogenic variants in this gene leads to a spectrum of disease now called PTEN hamartoma tumour syndrome (PHTS). Cowden syndrome (the predominant phenotype of PHTS) is estimated to affect 1:200,000 individuals - however it may be under-diagnosed. Guidelines for s...

A 10-year-old female was referred because of prolonged bleeding lasting for a week following a tooth extraction. She had menarche at the age of 9 years, and since then, she used to have regular heavy periods lasting for over two weeks every month. She had low haemoglobin, prolonged APTT and low von Willebrand antigen level. Therefore, she was diagnosed with von Willebrand disease. At the same time, she was found to have a high TSH and low free T4. She was referred to the paedi...

Thyroid hormone resistance is a rare condition, caused by mutations of the thyroid hormone receptor beta (THRB) gene, inherited in an autosomal dominant manner, resulting in decreased tissue sensitivity to thyroid hormone action, leading to high FT4 levels with normal TSH levels. We present a case of thyroid hormone resistance, initially misdiagnosed and treated as hyperthyroidism. An 8 year old girl was referred due to poor appetite, FT4 level was elevated (38.5 pmol/l) with ...

Introduction: Hashimoto’s thyroiditis is the most common cause of acquired hypothyroidism in children and adolescents affecting ten time more females than males. Diagnosis is based on clinical features and antibodies against thyroid peroxidase (TPO) or thyroglobulin (TG). Addison’s is an autoimmune disease resulting in primary adrenal insufficiency. It is extremely rare in children and easily misdiagnosed. Levothyroxine may precipitate adrenal crisis in individuals w...