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- Erichsen, Martina M, et al.
(author)
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Clinical, Immunological, and Genetic Features of Autoimmune Primary Adrenal Insufficiency: Observations from a Norwegian Registry.
- 2009
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In: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 94, s. 4882-4890
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Journal article (peer-reviewed)abstract
- Objective: Primary adrenal insufficiency [Addison's disease (AD)] is rare, and systematic studies are few, mostly conducted on small patient samples. We aimed to determine the clinical, immunological, and genetic features of a national registry-based cohort. Design: Patients with AD identified through a nationwide search of diagnosis registries were invited to participate in a survey of clinical features, health-related quality of life (HRQoL), autoantibody assays, and human leukocyte antigen (HLA) class II typing. Results: Of 664 registered patients, 64% participated in the study. The prevalence of autoimmune or idiopathic AD in Norway was 144 per million, and the incidence was 0.44 per 100,000 per year (1993-2007). Familial disease was reported by 10% and autoimmune comorbidity by 66%. Thyroid disease was most common (47%), followed by type 1 diabetes (12%), vitiligo (11%), vitamin B12 deficiency (10%), and premature ovarian insufficiency (6.6% of women). The mean daily treatment for AD was 40.5 mg cortisone acetate and 0.1 mg fludrocortisone. The mean Short Form 36 vitality scores were significantly diminished from the norm (51 vs. 60), especially among those with diabetes. Concomitant thyroid autoimmunity did not lower scores. Anti-21-hydroxylase antibodies were found in 86%. Particularly strong susceptibility for AD was found for the DR3-DQ2/ DRB1*0404-DQ8 genotype (odds ratio, 32; P = 4 x 10(-17)), which predicted early onset. Conclusions: AD is almost exclusively autoimmune, with high autoimmune comorbidity. Both anti-21-hydroxylase antibodies and HLA class II can be clinically relevant predictors of AD. HRQoL is reduced, especially among diabetes patients, whereas thyroid disease did not have an impact on HRQoL. Treatment modalities that improve HRQoL are needed.
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| 2. |
- Skjaerpe, Paal Andre, et al.
(author)
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Androgen receptor gene polymorphism and sex hormones in elderly men: the Tromso study
- 2009
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In: Asian Journal of Andrology. - : Medknow. - 1008-682X .- 1745-7262. ; 11:2, s. 222-228
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Journal article (peer-reviewed)abstract
- The aim of this study was to examine whether CAG/GGN repeats are significant modulators of serum concentrations of total and free testosterone (T) as well as of luteinizing hormone (LH) in elderly men. Sixty-nine 60- to 80-year-old men with subnormal T levels (<= 11.0 nmol L-1) and 104 men with normal T levels taking part in a nested case-control study were used for these analyses. Sex hormones were measured and free T was calculated. The CAG and GGN polymorphisms in the androgen receptor gene were determined by polymerase chain reaction and subsequent direct sequencing. There were no differences in the CAG and GGN repeat lengths between the groups. In cross-sectional analyses of the whole cohort, total and free T were positively associated with CAG length (all P < 0.05) before, but not after, waist circumference or body mass index was added to the model. CAG repeat lengths were weakly, but not independently, associated with total and free T. These findings indicate that when clinically evaluating T and LH levels in elderly men, the CAG and GGN repeat lengths do not need to be taken into consideration.
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