Endocrine Abstracts

Mitochondria are essential for synthesising ATP required for cellular metabolism. Mitochondria are able to alter their morphology and abundance through the balance of fission and fusion genes. T2DM is often accompanied by a metabolic syndrome within the individual. The aim of my PhD is to investigate whether metabolic dysregulation in T2DM can be linked to dysfunction within their mitochondria.Declaration of funding: EPSRC....

Case report: A 52-year-old woman presented with an 11-month history of increasing hirsutism and deepening voice. She had a past history of total abdominal hysterectomy (ovaries preserved) with adjuvant chemotherapy and radiotherapy for cervical carcinoma. She was on no medication. Examination revealed evidence of virilisation with no other abnormality.Investigations: Total testosterone=10.7 nmol/l (<2.9).FSH=31.7 U/l (37–1...

Gitelman’s syndrome (GS) is a rare autosomal recessive renal tubular disorder caused by defects of thiazide sensitive Na-Cl co-transporter due to mutations of the SLC12A3 gene.We report a case of a 23-year-old woman, who presented with excessive tiredness in her second pregnancy. She had a past history of hypokalaemia in a previous pregnancy (attributed to ‘vomiting’), which required multiple admissions for i.v. potassium replacement despi...

Background: Hypothyroidism is reported to be associated with mild insulin resistance though severe insulin resistance is rare. We report the case of a man presented with reversible severe insulin resistance in hypothyroidism.Case report: A 23-year-old obese man with autism was presented with poor responsiveness (GCS 7/15). He had general malaise for 2 days prior to admission. On admission, his test results showed random glucose – 60.8 mmol/l, potass...

Introduction: There remains considerable debate over combination T4/T3 therapy for thyroid hormone replacement. Whilst large randomised-controlled studies have failed to show benefit over T4 only, there remain patients who feel better on the combination. Animal studies suggest that up to 80% of intracellular T3 in the brain is derived from circulating T4 by local deiodination. We hypothesized that in patients on thyroxine ...

Multiple Endocrine Neoplasia 2 (MEN2) is a rare, autosomal dominant neuroendocrine tumour. MEN2A is a syndrome of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid tumours. MEN2B is characterised by MTC, pheochromocytoma, marfanoid habitus and intestinal & mucosal ganglioneuromas. MEN2 syndromes are due to mutations in the RET proto-oncogene, located near the centromere of the chromosome 10. While the commonest mutations described in MEN2A is in exon 11 (...

Objective: To determine the 24hour thyroid hormone profile on patients with combined T3/T4 therapy.Methods: Two subgroup of patients (10 on combined T3/T4 (study, S) and 10 T4 alone (control, C) were randomly selected from 697 patients who were already involved in WATTS study, after ethical approval. Prior to study entry all patients were on 100micrograms or more of T4. The study group received 10micrograms of T3 in place of 50micrograms of T4 while the ...

Objective: Many patients receiving thyroid hormone replacement therapy complain of persistent lethargy and related symptoms even with normal TSH levels. However, it remains unclear whether this is related to thyroxine replacement or coincidental psychological morbidity.Design: Using general practice computer records, 961 patients on thyroxine (minimum of 4 months) and their age- and sex-matched controls were identified and sent a two-page questionnaire, comprising the shor...

Background: Maternal B12 deficiency is linked with adverse metabolic disorders in infants. B12 has a potential epigenetic role which could influence placental dysfunction and fetal metabolism. Adipokines such as leptin and adiponectin play a major role in placental development by regulating lipid metabolism. Alterations in in-utero programming develop risk to obesity and metabolic diseases in offspring. B12 deficiency in mothers has been linked with higher cor...

Background: Vitamin B12 is crucial for placental development and fetal growth. B12 deficiency is associated with maternal obesity and adverse pregnancy outcomes. B12 is essential for the synthesis of S-Adenosyl methionine (SAM) which serves as a methyl donor in various cellular processes including DNA and RNA methylation. Pregnant women with low B12 have higher triglycerides, lower HDL and lower DNA methylation of cholesterol transcription factor. However, the...