Endocrine Abstracts

We present a patient with Gitelman’s syndrome who had marked symptoms of myalgia and lethargy secondary to electrolyte imbalances. Initial management with oral potassium and magnesium replacements failed and she had five to six hospital admissions a month via the emergency department for worsening symptoms and needing i.v. electrolyte replacement. Therefore, she had planned i.v. potassium replacement three times a week via the day unit instead. Although this significantly...

A 71-year-old male patient with no significant past medical history was admitted to hospital with acute hepatitis in July 2014 with bilirubin 98 μmol/l, ALT 1703 IU/l, and ALP 223 IU/l. Liver ultrasound showed a normal sized liver with normal echotexture. Liver screen including hepatitis A, B, C, E, and autoantibody screen was negative. Liver biopsy revealed acute hepatitis with patchy necrosis and inflammatory infiltrate consistent with inflammation, drugs, or autoimmune...

Background: Presently it is unknown how much of testosterone decline associated with aging is actually due to ageing per se, and how much is related to weight gain, decreased activity, and other age-related factors. Understanding the modifiable factors associated with low testosterone, such as obesity or cardiorespiratory fitness (fitness) is critical.Methods: The observational, cross-sectional study included 1653 men, ≥50 and <80 year...

Familial glucocorticoid deficiency (FGD) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation and can be fatal if unrecognised. The disease manifests clinically with increased ACTH and reduced cortisol levels. Our group has recently demonstrated that oxidative stress is implicated in the pathogenesis of this disorder.We previously identified mutations in nicotinamide nucleotide transhydrogenase (NNT) in pat...

Introduction: Adults with Type 1 Diabetes Mellitus (T1DM) are at risk of premature osteoporosis and fractures. The onset of T1DM typically starts during childhood and adolescence thus the effects of diabetes on the skeleton may be established in this period. Studies in children primarily use DXA to evaluate the effects of T1DM on bone with conflicting results. We present the first study in children assessing the impact of T1DM on skeletal microstructure and strength, using HRp...

Introduction: In recent years a growing number of gene mutations have been identified which cause a myriad of syndromes having adrenal insufficiency as a core characteristic. The evolution of each syndrome is dependent on the variant and the particular gene affected. Common practice is for candidate genes to be sequenced individually, which can be time consuming and is complicated by overlapping clinical phenotypes. The increasing availability and cost effectiveness of whole e...

Familial glucocorticoid deficiency (FGD, OMIM#202200) is a rare autosomal recessive disorder characterised by adrenal resistance to the action of ACTH, with isolated glucocorticoid deficiency. Recently, mutations in NNT, encoding the mitochondrial anti-oxidant nicotinamide nucleotide transhydrogenase have been reported to cause FGD.Our index case, from a highly consanguineous Kashmiri family, was diagnosed with adrenal insufficiency during a sep...

Familial glucocorticoid deficiency is an autosomal recessive disorder characterised by resistance to ACTH of the adrenal cortex, leading to isolated glucocorticoid deficiency and life-threatening hypoglycaemia. Half of all cases are caused by mutations in MC2R, MRAP, MCM4 or STAR. Recent work in our group has identified defects in nicotinamide nucleotide transhydrogenase (NNT) to be causal in a further 10% of cases. NNT generates the high con...

Introduction: Langerhans’ Cell Histiocytosis (LCH) is a rare disease, more common in children than in adults, resulting from aberrant proliferation of Langerhans’ cells, belonging to the monocyte–macrophage system.Case history: We present the case report of a 40-year-old man with a 16-year history of polyuria, polydipsia and tiredness. For 10 years he had perianal, groin, abdomen and scalp scarring, hyperpigementation along with follicles ...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by unresponsiveness to ACTH and isolated cortisol deficiency. FGD is caused by mutations in genes encoding the ACTH receptor (melanocortin 2 receptor (MC2R)), its accessory protein (MRAP) or the steroidogenic acute regulatory protein (StAR). One significant feature is generalized skin hyperpigmentation which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (...