Endocrine Abstracts

Introduction: A new Regional Paediatric Endocrine Service was established in 1993 which implemented a protocol for Congenital Hypothyroidism (CH) management. Its aim is to confirm the diagnosis, establish aetiology and start treatment within 48 hours after the result of the screening test.Objective: To audit the results of this protocol.Methods: Case note and laboratory data review for all Neonates referred since 1993 after a posit...

Aim: To present a case of a 54 year old gentleman presenting with polyuria and diagnosed with cranial diabetes insipidus.Methods: The case history, including, detailed results of laboratory tests are presented, and the findings are discussed.Results: Way back in October 2004 Mr Z.A. was referred to the ENT surgeons with hearing difficulties in the right ear. He was diagnosed with catarrhal otitis media and chronic rhinitis. Symptom...

Introduction: Aryl hydrocarbon receptor interacting protein (AIP) mutated Acromegaly is a complex rare disease. AIP mutations are associated with an aggressive, inheritable form of acromegaly that responds poorly to SST2-specific somatostatin analogues (SSAs). Literature reports demonstrate that second generation SSA, Pasireotide LAR, is superior to first generation SSAs in treating acromegaly with AIP mutation. Treating acromegaly with AIP mutation could be quite challenging....

Background: POLR3-related leukodystrophy is an autosomal recessive hypo-myelinating leukodystrophy characterized by specific features on MRI and varying combinations of four major clinical findings1. The latter include neurological dysfunction, abnormal dentition, endocrine dysfunction, and myopia1. Endocrine dysfunction in POLR3-related leukodystrophy includes hypogonadotropic-hypogonadism (HH), short stature, growth hormone deficiency, and less commonly...

Introduction: Masculinizing Gender-Affirming Hormone Therapy (GAHT) generally aims to induce testosterone levels equivalent to those of cisgender men and to reduce estradiol levels. There are no studies about bioavailable testosterone in this population.Aims: To determine the variation of the serum levels of sexual hormones in transmasculine people under GAHT and study the correlations between them and with BMI.Methods: Longitudina...

Introduction: β-cell function declines progressively in patients with type 2 diabetes (T2D). the fasting C-peptide/glucose ratio (Cp/G) is used for its evaluation. The GLP1 receptor agonist liraglutide improves glucose and weight control, presumably due to improvement of β-cell function and/or mass. This study evaluates the effect of a 6-months’ treatment with liraglutide in β-cell function, measured by Cp/G, in patients with obesity and T2D.<p class="a...

Background: Obesity is associated with increased atherogenesis through alterations in lipids, among other potential factors. Some of those abnormalities might be mediated by insulin resistance (IR).Aims: To compare lipid and apolipoprotein profile between lean and obese women; to evaluate the influence of IR on lipid and apolipoprotein profile, in obese women.Methods: We studied 112 obese and 100 normal-weight premenopausal women w...

Background: The effect of long term opioids on the hypothalamo-pituitary–adrenal (HPA) axis is conflicting. We present a case of a 21-year-old female who presented with adrenal insufficiency (AI) secondary to chronic tramadol use.Case summary: Our patient presented with a three year history of non-specific abdominal pain, lethargy and dizziness. No cause was found for these symptoms despite thorough investigations. One month before referral to Endoc...

Thyroidal pain is usually due to subacute thyroiditis. It seldom occurs in patients with Hashimoto’s thyroiditis (HT), and then its name is painful HT (PHT). Differently from subacute thyroiditis, occasional PHT patients show no benefit from medical treatment so that thyroidectomy is frequently needed. We report two women diagnosed of PTH and successfully treated with intrathyroidal corticosteroid injection after initial unsuccessful treatment with L-thyroxine replacement...

Artificial intelligence (A.I.) impacts patient care but it is also evolving our educational system. Several experts have pointed out the benefits and limitations associated with its use in medicine, however the applications of A.I. in an educational context requires further discussion. The rising popularity of A.I. for medical solutions is evident from the increasing amount of research conducted on this subject, and Endocrine Education should not be an exception. Researchers h...