Endocrine Abstracts

Endometriotic tissues express oestrogen receptors and depend on oestrogen to proliferate, survive and cause symptoms, such as deep neuropathic pain, by recruiting neurones into the tissue. Raloxifene is an anti-oestrogen and so may prevent many of these effects and although the effect of raloxifene on endometriosis has not been directly assessed, low-dose use in a recent trial has been associated with a rapid return of pain symptoms. In this pilot study, pre-menopausal women w...

Liquid chromatography tandem mass spectrometry (LC–MS/MS) methods are considered superior to immunoassay for the analysis of serum 25-hydroxy vitamin D (25-OHD) due to improved performance and potential cost benefits. As LC–MS/MS is appropriate for the analysis of other clinically relevant hormones tandem mass spectrometers are becoming commonplace in UK clinical laboratories. However, like immunoassay, LC–MS/MS methods are not foolproof and inappropriate use of...

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity and 17,20 lyase activity. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in hypertension and mild glucocorticoid deficiency. Loss of 17,20 lyase activity results in sex steroid deficiency, presenting with undervirilisation in boys (46, XY DSD) and lack of pubertal development in girls. Here we present the cases of two si...

Introduction: The clinical differentiation between androgen insensitivity syndrome (AIS) and 5 alpha reductase deficiency (5-ARD) can be difficult. Presenting features may be similar and initial investigations may still not be discriminatory.Methods: Case notes on a total of ten patients with the initial diagnosis of AIS or 5-ARD were retrospectively reviewed.Results: All ten children had a 46XY male karyotype. Four children were r...

Diabetes mellitus like all chronic illnesses requires lifelong management (self or guided) with regular health professional support and supervision. Non-attendance at outpatient clinics (OPD) is a common cause of inefficiency in our current health care system causing undue wastage of clinician time and resources and potentially lengthening waiting times.Aim: The aim of our pilot project was to improve our diabetes OPD from the current attendance of 78% t...

Background and aims: Longitudinal data from the North West Adelaide Health Study (NWAHS) were used to examine the effect of development of metabolic syndrome between Stage 1 (2000–2003) and Stage 2 (2004–2006) on quality of life.Material and methods: The NWAHS is a random, representative sample of people aged 18 years and over living in the north west region of Adelaide. Participants were recruited via telephone interviews to attend the clinic....

Hydrocortisone treatment in septic shock promotes shock reversal and reduces mortality. We hypothesised the doses that used (200–300 mg/2 h) would result in plasma cortisol levels sufficient to saturate the 11 beta-hydroxysteroid dehydrogenase 2 enzyme (11 beta-HSD 2) with cortisol inactivation overload. Consequently cortisol would access the mineralocorticoid receptor producing mineralocorticoid effects. Hypertensive metabolic alkalotic effects would tend to counteract t...

The human CYP17A1 enzyme exerts two activities, 17a-hydroxylase and 17,20 lyase, catalysing key steps in human adrenal steroid biosynthesis. An in frame deletion of 3 bp in exon 1 of the CYP17A1 gene, resulting in the loss of phenylalanine in position 53 (F53del), is one of the first CYP17A1 mutations described (JBC 1989, 264:18076). Reported patients have invariably presented with severe hypokalaemic hypertension, reflecting 17α-hydoxylase deficiency, and s...

We describe an 80 year-old man with Graves’ thyrotoxicosis and thyroid orbitoapthy accompanied by ocular myasthenia gravis.He presented in 2004 with chemosis, exophthalmos, diplopia, ptosis, and restricted movements. He also gave history of weight loss (six kilograms). FT4 29, FT3 7.7 and TSH 0.04. MRI Orbits revealed swelling of the extra-ocular muscles.Ocular movement was markedly restricted but a curious feature of the pres...

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