Endocrine Abstracts

The management of congenital adrenal hyperplasia is challenging. Patients suffer from multiple morbidities related to excess androgens or glucocorticoid over-replacement. Multiple studies in Europe and the US have shown a high rate of metabolic complications in patients suffering from CAH including obesity, hypercholesterolaemia, insulin resistance, high blood pressure and low bone mineral density. Some studies have shown that patients with CAH have a poor quality of life and ...

Why would you want to be a clinical academic? Why is research so enticing for some? Does intellectual stimulation overcome potentially lower salaries and longer hours of harder work? Yes, for some, the possibility of making a difference to medical knowledge is provoking and stimulating. Clinical academia gives researchers the possibility to express their own unique characteristics and traits including creativity and communication skills, professionalism and humanism, excitemen...

Mild autonomous cortisol secretion (MACS) is a state of biochemical hypercortisolaemia with ACTH independence arising in the context of adrenal incidentalomas. There are no external discriminatory features of overt Cushing’s syndrome. 20 to 50% of adrenal incidentalomas are associated with MACS depending on the cut-offs used. The condition is associated with several cardiometabolic comorbidities including diabetes, hypertension, osteoporosis and metabolic syndrome. It is ...

Background: The late effects of childhood cancer therapy include a higher risk of subsequent primary cancers, fertility issues, and other endocrine dysfunction.Case: A 47 year old woman was treated at age 9 for acute myeloid leukaemia with chemotherapy (DAT, MACE, and cyclophosphamide), total body irradiation (990 cGy) and allogeneic bone marrow transplantation. Aged 22, a rapidly enlarging right sided thyroid nodule developed in the context of a multino...

Diagnosis of Cushing’s disease can be a difficult and lengthy process with repeated and dynamic testing required to ensure the correct diagnosis is made prior to invasive intervention such as surgery. This case demonstrates that even with meticulous investigation the underlying cause of the disease can still be evasive. A 43-year-old female presented with a history of hypertension since age 20, managed with Amlodipine (10 mg) and Ramipril (10 mg). She was investigated for...

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...

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...

Background: Silent corticotroph adenomas (SCAs) are considered to be clinically silent and non-secreting but exhibit positive adrenocorticotropic hormone (ACTH) immunostaining. Whether, SCAs behave more aggressively than other non-functioning adenomas, remains controversial. We characterized our tertiary centre cohort of SCA patients, compared them to gonadotroph adenomas (GAs) and assessed for features predictive of recurrence.Objective: To compare char...