Endocrine Abstracts

Case history: Twenty-one year-old female with Di-George syndrome, genetically confirmed at the age of 6 years, was on 1-alfacalcidol for chronic hypoparathyroidism. Her initial presentation was with Seizures in childhood. She has been seizure free with treatment of hypocalcaemia. Her serum calcium levels have been fluctuating with intermittent hypercalcaemia over the years.Investigations: Initial results on 1.5 mcg of 1-alfacalcidol OD:<p class="abst...

Myxoedema coma or severe decompensated hypothyroidism is rare but has high mortality; appropriate early recognition and treatment is essential. We present a case of severe hypothyroidism with multi organ failure. A 58-year-old lady with several months’ history of loss of appetite, tiredness and hair loss presented with progressive lethargy, sleepiness and abdominal distension for 1 week. On admission she was very drowsy, had a doughy dry skin and facial puffiness. Large a...

Approximately 25–40% of men with type 2 diabetes suffer from hypogonadism, mostly mixed type. Despite a clear association between diabetes and hypogonadism, the exact mechanism is not completely understood; insulin resistance, elevated oestradiol and inflammatory mediators may all have key roles. Studies so far, are conflicting on the benefits of testosterone on metabolic parameters in these men. Hughes et al and meta-analysis by Cai et al showed a significant improvement...

Nerve sheath tumours originate from myelin that surrounds peripheral nerves and include schwannomas and neurofibromas. They can occur sporadically or as part of neurofibromatosis 1 or 2. Very rarely, they have been described to arise from the viscera including the adrenal gland. It is thought that they arise from Schwann cells around nerve fibres that supply the adrenal medulla. These are rather slow growing and non-functioning adrenal tumours that can be found incidentally or...

Phaeochromocytomas are rare neuroendocrine tumours with an incidence of 2–8/million persons per year. They occur as a sporadic entity or form part of a complex autosomal dominant familial genetic syndrome, mainly MEN2A, MEN2B, Neurofibromatosis Type1, Von Hippel-Lindau disease (VHL) and mutations in succinyl dehydrogenase. The mean age at diagnosis is in the third decade in the familial cases and the risk of recurrence has been described as high as 23%.<p class="abste...

Meningiomas account for about 1% of sellar masses; they can mimic macroadenomas. Although majority are WHO grade 1 tumours, these are technically challenging due to high vascularity and often present with visual disturbance. Certain radiological features might help to suspect sellar/suprasellar meningiomas. We present two cases sellar meningioma.Case 1: A 48-year-old-female with presumed diagnosis of non-functioning pituitary macroadenoma (NFPA) with mil...

Introduction: Hypothyroidism is a well-recognised cause of macrocytosis, but microcytosis is not widely recognised to be associated with hyperthyroidism. Thyroid abnormalities are often associated with various haematological changes and Graves’ disease has been reported to be mimicking beta thalassaemia trait in the literature. We discuss two cases of microcytosis related to hyperthyroidism that fully resolved once euthyroidism was achieved.Case 1: ...

Delay in diagnosis of adrenal insufficiency is common. About 47% of patients have symptoms for over 1 year and 20% for over 5 years before diagnosis. Autoimmunity is the most common aetiology for Primary Adrenal Insufficiency (PAI) in developed countries. But up to 10–20% of PAI could be due to TB.We present an interesting case of 42 year old Afro Caribbean male with isolated adrenal TB. He had 2 year history of nonspecific illness including reduced...

Pheochromocytomas account for increased catecholamine secretion in about 90% of cases. Less than 5% of Less head and neck paragangliomas (PGs) secrete catecholamines. As in all extra-adrenal catecholamine secreting paraganglionomas (CSPs) they produce predominantly norepinephrine and little epinephrine secretion. About 25% of PGs are familial and have mutations involving RET,VHL, SDHB, SDHC or SDHD and other newly described genes.We present two cases of ...

Familial hypocalciuric hypercalcaemia (FHH) is a rare condition and can be mistaken for primary hyperparathyroidism (PHPT). Distinguishing this from the later is vital to avoid un-necessary surgery as this is a benign condition. Ca:Cr excretion ratio >0.01 in a spot urine is widely used to rule out FHH. However this was calculated from 24 h urine samples on the original studies.We present a case of 46-year-old lady who presented with symptomatic hype...