Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can have multiple effects on growth, sexual development, fertility and overall health. Sub-optimal adherence to treatment regimens during adolescence and puberty can have lifelong consequences. We present the case of 20-year-old male who was diagnosed at birth. His parents are first cousins, and his two siblings also have CAH. Initial treatment comprised hydrocortisone and fludrocortisone and administration ...

Hypothalamic amenorrhea is a diagnosis of exclusion. It accounts for 30% of cases of secondary amenorrhoea in women of reproductive age. It is caused by abnormal signalling between the hypothalamus and the pituitary gland due to deficient pulsatile secretion of GnRH. This reduced secretion of GnRH leads to levels of LH and FSH that are insufficient to maintain full folliculogenesis and normal ovulatory ovarian function, with consequent oestrogen deficiency. There are many caus...

Hyponatraemia is the most common electrolyte abnormality encountered in clinical practice and second most common endocrine referral. Acute severe hyponatremia is potentially life-threatening and must be treated promptly and aggressively. SIADH, Cortisol deficiency, Liver Disease, Heart disease, certain medications and excess alcohol intake can frequently lead to hyponatremia. We present a case of 41 year old male known to have alcoholic liver disease and depression who present...

Introduction: Prolactinoma are the commonest functioning pituitary tumors. Pressure symptoms such as headache and visual field defect are common in patients with macroprolactinoma. Early investigation and intervention can deter permanent visual impairment, pituitary apoplexy and panhypopituitarism.Case vignette: 27-year-old lady presented to ophthalmologist with two months history of headache with visual impairment on the right side. She was found to hav...

A 32-year-old female was referred with abnormal thyroid function tests after investigation for nonspecific joint symptoms and exhaustion in 2010. Initial biochemistry showed TSH 0.03 mU/l(0.2-5), Free T4 75 pmol/l(9-24). At her endocrine appointment she reported loose stools, tremors, exertional dyspnea and a peculiar sensation in neck in keeping with thyrotoxicosis. Since puberty, she had problems acquiring weight. Repeat thyroid function demonstrated TSH <0.01 mU/land Fr...

Case history: 21-year-old male presented in November 2006 with visual loss, headaches and fatigue. No previous past medical history. Visual field testing confirmed a left temporal hemianopia with right temporal upper quadrantanopia.Investigations: Brain imaging revealed a large macroadenoma with suprasellar and lateral extension. Hormone testing demonstrated abnormalities in TSH 5.13 mU/L, Free T4 7.1 pmol/l, random Cortisol 64nmol/l and Testosterone 2.3...

Introduction: Primary hyperparathyroidism is usually caused by a parathyroid adenoma (80-85%), occasionally by primary parathyroid hyperplasia (10-15%), and rarely by atypical parathyroid tumor (APT) or carcinoma (<1%). APT reflects parathyroid neoplasm of uncertain malignant potential which poses a challenge for differential diagnosis with parathyroid carcinomas. Most patients exhibit strong symptomatology of hypercalcemia at presentation shared with the benign causes of ...

Introduction: Primary hyperparathyroidism may be sporadic or occur as part of a genetic predisposition. Inactivation of CDC73 tumour suppressor gene can cause hyperparathyroidism-jaw tumour (HPT-IJ) syndrome, parathyroid carcinoma or familial isolated hyperparathyroidism (FIHP).Case details: We report a 26 year old gentleman, previously fit and well who was found to have hypercalcemia on a routine testing. Renal ultrasou...

Introduction: Ectopic Cushing’s syndrome constitutes the second most common paraneoplastic syndrome and has been seen in 1-5 % of small cell lung cancers. It has a poor prognosis and can present with life-threatening complications.Case: We present a 66-year-old lady who attended with peripheral oedema, bruising and visual blurring. Past medical history included bronchiectasis, oesophageal web, ischemic colitis, Ehlers Danlos syndrome, and hypoxic br...

Carbimazole is one of the most commonly prescribed endocrine medications. There are a wide range of side effects associated including bone marrow disorders, severe cutaneous reactions, agranulocytosis and vasculitis. There have been few reports of anti-thyroid associated arthritis, described as migratory arthritis with prompt resolution following medication discontinuation. Side effects reported in British national Formulary and Electronic Medicine Compendium include myopathy ...