Body composition and bone mineral density in women with Cushing's syndrome in remission and the association with common genetic variants influencing glucocorticoid sensitivity.

OBJECTIVE: Adverse body compositional features and low bone mineral density (BMD) are the characteristic of patients with active Cushing's syndrome (CS). The aim of this study was to evaluate body composition and BMD in women with CS in long-term remission and the influence of polymorphisms in genes affecting glucocorticoid (GC) sensitivity on these end-points. DESIGN, PATIENTS AND METHODS: This was a cross-sectional, case-controlled study, including 50 women previously treated for CS and 50 age and gender-matched controls. Median (interquartile range) remission time was 13 (5-19) years. Body composition and BMD were measured with dual-energy X-ray absorptiometry. Five polymorphisms in four genes associated with GC sensitivity were analysed using TaqMan or Sequenom single-nucleotide polymorphism genotyping. RESULTS: Patients with CS in remission had increased abdominal fat mass (P<0.01), whereas BMD was not significantly different at any site between patients and controls. In patients, the NR3C1 Bcl1 polymorphism was associated with reduced total (P<0.05) and femur neck BMD (P<0.05). The polymorphism rs1045642 in the ABCB1 gene was associated with increased abdominal fat mass (P<0.05) and decreased appendicular skeletal muscle mass (P<0.05). GC replacement was associated with reduced total BMD (P<0.01), BMD at lumbar spine (P<0.05) and increased abdominal fat (P<0.01). CONCLUSION: Ongoing GC replacement therapy together with polymorphisms in two genes related with GC sensitivity is associated with abdominal obesity and adverse skeletal health in patients with CS in long-term remission.

Adrenal lesion frequency: A prospective, cross-sectional CT study in a defined region, including systematic re-evaluation.

BACKGROUND: incidentally detected adrenal lesions have become a growing clinical problem. PURPOSE: to prospectively estimate and validate the prevalence of incidentally detected adrenal lesions (adrenal incidentaloma) in patients with or without malignant disease undergoing CT. MATERIAL AND METHODS: during 18 months all adult patients with incidentally discovered adrenal lesions detected at CT were prospectively reported from the radiology departments of all hospitals in Western Sweden (1.66 million inhabitants). Frequencies of adrenal lesions initially reported at CT and at a systematic re-evaluation were compared. The interobserver variation in blindly assessing adrenal lesions was also analyzed. RESULTS: adrenal lesions were reported and verified in 339 patients (193 females; mean age 69 years, range 30-94 years). Mean lesion size was 25.8 mm (range 8-94 mm). The mean frequency of originally reported adrenal lesions was 0.9% (range 0-2.4% between hospitals). The systematic re-evaluation of 3801 randomly selected cases showed a mean frequency of 4.5% (range 1.8-7.1% between hospitals). The re-evaluation revealed 177 cases with adrenal lesions, 30% of these were submitted by the local radiologist in accordance with the study design, 23% were described in the local radiology report but not submitted to the study center, while 47% were neither locally reported nor submitted. CONCLUSION: adrenal lesions are under-reported in clinical practice. Prevalence figures for adrenal incidentalomas should therefore be interpreted with caution, especially in multi-center settings.

[New service for laboratory investigation of problematic cases. Four patients illustrate the value of EQUALIS]. / Ny möjlighet till laboratorieutredning av oklara fall. Fyra patientfall illustrerar värdet av EQUALIS.

In 1996, the Endocrinology Group in EQUALIS, in collaboration with The Thyroid Unit at The Section of Endocrinology at Sahlgrenska University Hospital, introduced a "patient-related" quality assurance program. Serum samples from patients with established or suspected thyroid disorder and/or results from thyroid-related biochemical measurements which were at variance with the clinical presentation, were analyzed by the participants of an external quality assurance program in endocrinology. The results from this program were informative as regards capacity, in the individual laboratories, for the evaluation of analytical and/or biological factors causing unexpected results from the measurement of thyroid-related serum components. We now present four clinical cases, which had offered diagnostic problems. EQUALIS, in collaboration with the participants of the external quality assurance program in endocrinology and on the basis of experiences from this program, now offers a diagnostic service for clinical chemistry laboratories and physicians when they are confronted with unexpected results from the immunochemical measurement of analytes included in the program.