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A Common Polymorphism of the SRD5A2 Gene and Transsexualism

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Christian Schneeberger, PhD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Lukas A. Hefler, MD

Department of Obstetrics and Gynecology , Medical University Vienna, Vienna, Austria

Mick van Trotsenburg, MD

Department of Obstetrics and Gynecology, Free University in Amsterdam, Amsterdam, Netherlands

Ulrike Kaufmann, MD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Johannes C. Huber, MD, PhD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Clemens B. Tempfer, MD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria, clemens.tempfer{at}meduniwien.ac.at

The relation between genetic variation of the androgen metabolism and transsexualism is unknown. In a case-control study of 100 male-to-female (MtF) transsexuals, 47 female-to-male (FtM) transsexuals, and 1670 controls, the authors assess allele and genotype frequencies of the steroid 5- reductase (SRD5A2) Val89Leu polymorphism using polymerase chain reaction. Allele and genotype frequencies are not significantly di ferent between MtF transsexuals and male controls (SRD5A2 V: 137/200 [69%] and SRD5A2 L: 63/200 [31%] vs 1065/1510 [71%] and 445/1510 [29%], respectively; P = .6; odds ratio [OR], 1.10; 95% confidence interval [CI], 0.76-1.58; SRD5A2 V/V+V/L: 92/100 [92%] and L/L 8/100 [8%] vs SRD5A2 683/755 [91%] and 72/755 [9%], respectively, P = .7; OR, 0.82; 95% CI, 0.24-2.84). Allele and genotype frequencies are also not significantly di ferent between FtM transsexuals and female controls (SRD5A2 V: 70/94 [74%] and SRD5A2 L: 24/94 [26%] vs 1253/1830 [69%] and 573/1830 [31%], respectively; P = .3; OR, 0.75; 95% CI, 0.45-1.26; SRD5A2 V/V+V/L: 44/47 [93%] and L/L 3/47 [7%] vs 823/915 [90%] and 92/915 [10%], respectively, P = .6; OR, 0.61; 95% CI, 0.11-3.32). Of note, there is no gender-specific genotype distribution among controls. The SRD5A2 Val89Leu SNP is not associated with transsexualism, refuting SRD5A2 as a candidate gene of transsexualism.

Key Words: Transsexualism • gender ,sex steroids • polymorphism • SRD5A2 • steroid 5- reductase.

Reproductive Sciences, Vol. 14, No. 7, 705-709 (2007)
DOI: 10.1177/1933719107306230


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