The CYP17 MspA1 Polymorphism and the Gender Dysphoria. (29th April 2015)

• Record Type: Journal Article
• Authors: Fernández, Rosa; Cortés‐Cortés, Joselyn; Esteva, Isabel; Gómez‐Gil, Esther; Almaraz, Mari Cruz; Lema, Estefanía; Rumbo, Teresa; Haro‐Mora, Juan‐Jesús; Roda, Ester; Guillamón, Antonio; Pásaro, Eduardo
• Is Part Of: Journal of sexual medicine. Volume 12:Number 6(2015:Jun.)
• Page Start: 1329
• Page End: 1333
• Publication Date: 2015-04-29
• Subjects: Sexual disorders -- Periodicals; Sex -- Periodicals; Sexual health -- Periodicals; 616.69005
• DOI: 10.1111/jsm.12895
• Languages: English
• ISSNs: 1743-6095

Abstract

<abstract abstract-type="main"> <title>Summary</title> <sec id="jsm12895-sec-0001" sec-type="section"> <title>Introduction</title> <p>The A2 allele of the <italic>CYP</italic><italic>17</italic> <italic>Msp</italic>A1 polymorphism has been linked to higher levels of serum testosterone, progesterone, and estradiol.</p> </sec> <sec id="jsm12895-sec-0002" sec-type="section"> <title>Aim</title> <p>To determine whether the <italic>CYP</italic><italic>17</italic> <italic>Msp</italic>A1 polymorphism is associated with transsexualism.</p> </sec> <sec id="jsm12895-sec-0003" sec-type="section"> <title>Methods</title> <p>We analyzed 151 male‐to‐female (MtF), 142 female‐to‐male (FtM), 167 control male, and 168 control female individuals. Fragments that included the mutation were amplified by PCR and digested with <italic>Msp</italic>A1. Our data were compared with the allele/genotype frequencies provided by the <italic>1000 Genomes</italic> Data Base, and contrasted with a MEDLINE search of the <italic>CYP</italic><italic>17</italic> <italic>Msp</italic>A1 polymorphism in the literature.</p> </sec> <sec id="jsm12895-sec-0004" sec-type="section"> <title>Main Outcome Measures</title> <p>We investigated the association between transsexualism and the <italic>CYP</italic><italic>17</italic> <italic>Msp</italic>A1 polymorphism.</p> </sec> <sec id="jsm12895-sec-0005" sec-type="section"> <title>Results</title> <p>A2 frequency was higher in the FtM (0.45) than the female control (0.38) and male control (0.39) groups, or the MtF group (0.36). This FtM > MtF pattern reached statistical significance (<italic>P</italic> = 0.041), although allele frequencies were not gender specific in the general population (<italic>P</italic> = 0.887). This observation concurred with the <italic>1000 Genomes Data Base</italic> and the MEDLINE search.</p> </sec> <sec id="jsm12895-sec-0006" sec-type="section"> <title>Conclusion</title> <p>Our data confirm a sex‐dependent allele distribution of the <italic>CYP</italic><italic>17</italic> <italic>Msp</italic>A1 polymorphism in the transsexual population, FtM > MtF, suggestive of a hypothetical A2 involvement in transsexualism since the allele frequencies in the general population seem to be clearly related to geographic origin and ethnic background, but not sex. <bold>Fernández R, Cortés‐Cortés J, Esteva I, Gómez‐Gil E, Almaraz MC, Lema E, Rumbo T, Haro‐Mora J‐J, Roda E, Guillamón A, and Pásaro E. The <italic>CYP</italic>17 <italic>Msp</italic>A1 polymorphism and gender dysphoria. J Sex Med 2015;12:1329–1333.</bold></p> </sec> </abstract>