Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2011) 26 P356

ECE2011 Poster Presentations Steroid metabolism (10 abstracts)

Hormonal parameters and sex hormone receptor gene polymorphisms in males with autoimmune diseases

Charalampos Doukas 1 , Katerina Saltiki 1, , Kostas Terzidis 1, , Aimily Mantzou 2 , Lida Sarika 1 , Andriana Cimponeriu 1 , Petros Sfikakis 3 & Maria Alevizaki 1,


1Endocrine Unit, Department of Medical Therapeutics, Alexandra Hospital, Athens University School of Medicine, Athens, Greece; 2Department of Endocrinology and Metabolism ‘Evgenidion’ Hospital, Athens University School of Medicine, Athens, Greece; 3Department of B’ Medical Propaideutics, Laiko Hospital, Athens University School of Medicine, Athens, Greece.


Introduction: Autoimmune disease (AD) is more common in women than in men. Sex hormones may play a role. Sex hormone receptors (SHR) are expressed in cells of the autoimmune system. We investigated the possible role of hormonal parameters and of common gene polymorphisms of the estrogen receptor alpha (ESR1), beta (ESR2) and androgen receptor (AR) in the presence of AD in men.

Methods: In total 227 men were studied; 125 had at least one AD: Hashimoto’s (n=65), Graves’ (n=12), SLE (n=10), RA (n=38). 152 were controls. Estradiol, testosterone, SHBG, insulin, glucose and lipid levels were measured after discontinuation for ≥1 month of any corticosteroid therapy. Molecular analysis of the PvuII ESR1, AluI ESR2 and the number of the AR CAG repeats ((CAG)n) was performed.

Results: The frequency of ESR1 PvuII and ESR2 AluI did not differ between patients with AD and controls (allele frequency 52.2%, 40.2% in AD; 51.0% and 46.4% in control). The distribution of (CAG)n did not differ between the two groups: (AD: (CAG)n 16–30, mean 21.38, control: 9–30, mean 20.7). Men with AD had higher estradiol levels (AD 31.32±12.1, control 20.37±7.9, P<0.001). No other significant differences in hormone, biochemical and clinical parameters were found. In AD group the (CAG)n was positively associated with estrogen (r=0.39, P=0.002); AluI carriers had lower SHBG levels (27.20 vs 39.49, P=0.001), higher waist perimeter, BMI and weight compared to non carriers (99.09 vs 91.58 cm, P=0.025, 27.36 vs 24.55, P=0.008 and 83.86 vs 75.21 kg, P=0.006 respectively).

Conclusions: Higher estradiol levels may play a role in the appearance of AD in men. Distribution of common polymorphisms of SHR genes does not differ between patients and controls. We confirmed the positive association of estrogen levels with the CAG repeat length. The ESR2 AluI may adversely affect adiposity parameters in men with AD.

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