Endocrine Abstracts

Background: Immune checkpoint inhibitors (ICPis) have become a cornerstone of cancer management. Whilst endocrine-related adverse effects are one of the most common immune-related adverse events, ICPi-induced de novo diabetes occurs at low frequencies1. We describe a case of ICPi-induced de novo type 1 diabetes presenting with severe diabetic ketoacidosis (DKA) in a female with metastatic melanoma.Case report: A 50-year-old l...

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...

The patient is a 45 year old gentleman known case of HIV seropositivity (well-controlled, undetectable viral load) and polycystic kidney disease, who was referred to our Endocrine clinic by the Infectious disease specialists in view of a 4 year history of erectile dysfunction (ED – preceded diagnosis of HIV) and a low testosterone level. During the first consultation, the patient reported occasional lethargy and long term nausea which was attributed to his retroviral trea...

A sixty-four-year old lady with a past medical history of total thyroidectomy for Graves’ disease and atrial fibrillation on amiodarone was referred to the endocrine out-patients in view of hypothyroidism. Since starting amiodarone, the TSH was noted to be elevated at 75 mU/l and the free T4 was 18 pmol/l. The patient complained of non-specific lethargy and was administered levothyroxine 50 mcg daily. Despite this her TSH remained elevated at 147 mU/l with a free T4 of 17...

Background: The concept of autoantibody-negative Graves’ disease (GD) is a subject of debate. Studies have revealed that autoantibody-negative GD does exist, albeit rare.1Method: Over a 3-year period, a total of 108 hyperthyroid patients who exhibited diffuse or normal thyroid uptake on thyroid scintigraphy, were assessed in a cross-sectional study. The thyroid function tests, TSH-receptor antibody (TRAb) levels, anti-thyroid peroxidase (anti-TPO) a...

Background: Long-term glucocorticoids can result in iatrogenic Cushing’s syndrome with adrenal suppression. Most patients reactivate their hypothalamic-pituitary-adrenal axis once they’re weaned off glucocorticoids. During glucocorticoid withdrawal, many clinicians switch patients to hydrocortisone to benefit from its short half-life1. However, in some patients, hypothalamic-pituitary-adrenal axis recovery is delayed despite the above. It is unclear whethe...

Prior to therapy, patients choosing I131 therapy for the treatment of Grave’s disease were pre treated with carbimazole. Post I131 they have their thyroid function checked monthly in primary care prior to clinic review at 3 months. Carbimazole can be restarted if clinically indicated and treatment with thyroxine was recommended if their TSH was greater than 3.5 mU/l (ref range 0.35–5.5). A previous audit had demonstrated that 24% of patients had an elevated TSH great...

A 37-year-old Nigerian lady was referred to the endocrinology clinic with worsening dyspnoea, weight loss, poor sleep and palpitations over the preceding few months. She had a past history of depression treated with citalopram. She was clinically and biochemically thyrotoxic with a TSH <0.01 μ/l [0.4–5] and free T4 49.3 pmol/l [9–19]. TSH receptor antibodies were positive. She was commenced on carbimazole 40 mg once daily and propranolol 40 mg twi...

The basics of molecular genetics are reviewed with emphasis on introducing terminology frequently encountered in genetic lab results and in lectures focusing on the genetic origins of disease. Mutations thought to be associated with various phenotypical features of Turner syndrome are identified. Specific examples of genetic test results revealing Turner syndrome are reviewed. The new molecular testing available for diagnosing Turner syndrome is presented. Applications to the ...

Problem: Programs for adolescents with Turner syndrome (TS) are currently based on evidence derived from medical surveillance or parental and teacher perceptions. Little is known about how personal perceptions in this population influence behavior and psychosocial outcomes. Facing issues associated with puberty and young adulthood, such as body image, relationships, and careers, can be more challenging when living with TS.Framework: Unlike frameworks for...