Endocrine Abstracts

Techniques of analysis of urinary steroid metabolites evolved rapidly in the 1960 s from paper via thin layer and gas-liquid chromatography (GC) to GC-mass spectrometry. Formation of trimethylsilyl derivatives was a critical development for GC. This enabled all the major analytes to be identified and quantified in one run and the term ‘steroid profile’ for this first emerged in 1968. The use of capillary columns in place of packed columns, pioneered in the UK in th...

Urinary steroid profiling by capillary gas chromatography is useful for identification of disordered steroid metabolism and, when 24h collections are made, for determination of steroid production rates. We have noted a substantial clinical demand for analysis of random collections, most commonly from children with precocious puberty and a general belief that relating steroid levels to creatinine would offset the disadvantage of a short collection. Given the known circadian var...

Patients with acute intermittent porphyria (AIP) but not those with porphyria cutanea tarda (PCT) have a reported predominance in urine of 5 beta-reduced androgen metabolites over 5 alpha epimers. Steroids of 5 beta- androstane and pregnane types induce delta-aminolevulinic acid (ALA) synthase in chick embryos in vitro, so altered 5-reduction may predispose to attacks. We have comprehensively examined urine androgen and cortisol metabolites by gas-liquid chromatography and uri...

For investigation of mild glucocorticoid resistance, dexamethasone may be inappropriate because, unlike cortisol, it crosses the blood-brain barrier and suitably low doses are difficult to titrate. Prednisolone has been proposed as an alternative but assay of cortisol as an endpoint is subject to cross-reaction with prednisolone in most ligand assays. Using capillary gas chromatography, we can distinguish urinary cortisol and prednisolone metabolites. We have compared this app...

Acute cortisol increase in man, whether from endogenous or exogenous sources, is associated with changes in cortisol:cortisone equilibrium. We have examined these during normal daily circadian rhythms and following treatment with hydrocortisone. Following local ethical committee approval, four adult volunteers (2 male) collected urine samples over 3 hour periods starting from midnight and over hourly periods between 0600 & 0900 to define the morning cortisol peak. They pro...

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...

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A South Asian woman aged 44 years presented with longstanding hirsutism. Her periods had always been regular and she had two children. She had been treated with spironolactone and Dianette without clinical benefit and the hirsutism was managed cosmetically. Investigations showed a high serum testosterone of 6.1 nmol/l ( 1-3nmol/l) and androstenedione 25nmol/l (2-10nmol/l). Serum sex hormone binding globulin was elevated at 96 nmol/l (23-85nmol/l), with normal DHEA sulphate, 4....

A 75-year-old female presented with 12kg weight loss and malaise, 18 months after a diagnosis of type 2 diabetes mellitus. Abdominal CT scanning demonstrated bilateral adrenal masses and her symptoms responded rapidly to empirical treatment with dexamethasone. CT guided biopsy demonstrated adrenal hyperplasia.Centripetal weight distribution and proximal myopathy were prominent, and serum cortisol failed to suppress following standard 48h low dose (662nm...

Background: Glucocorticoids play a key role in determining body fat distribution. Excess circulating glucocorticoids lead to intrahepatic fat accumulation. Obesity is associated with enhanced glucocorticoid production but this is offset by enhanced degradation such that circulating steroid concentrations are normal. However, tissue-specific pathways may lead to different degrees of cortisol exposure in different organs. Local steroid exposure in the liver is determined by the ...