Contributions of CAG repeat length in the androgen receptor gene and androgen profiles to premature pubarche in Korean girls

  • Kang Min Jae
    Department of Pediatrics, Hallym Sacred Heart Hospital, Anyang 14068, Korea
  • Lee Jeong Seon
    Department of Pediatrics, Seoul National University Hospital, Seoul 03080, Korea
  • Kim Hwa Young
    Department of Pediatrics, Seoul National University Hospital, Seoul 03080, Korea
  • Jung Hae Woon
    Department of Pediatrics, Seoul National University Hospital, Seoul 03080, Korea
  • Lee Young Ah
    Department of Pediatrics, Seoul National University Hospital, Seoul 03080, Korea
  • Lee Sun Hee
    Department of Pediatrics, Busan Paik Hospital, Busan 47392, Korea
  • Seo Ji-Young
    Department of Pediatrics, Eulji General Hospital, Seoul 01830, Korea
  • Kim Jae Hyun
    Department of Pediatrics, Ilsan Paik Hospital, Goyang 10380, Korea
  • Chung Hye Rim
    Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam 13620, Korea
  • Kim Se Young
    Department of Pediatrics, Bundang Jeseang General Hospital, Seongnam 13590, Korea
  • Shin Choong Ho
    Department of Pediatrics, Seoul National University Hospital, Seoul 03080, Korea
  • Yang Sei Won
    Department of Pediatrics, Seoul National University Hospital, Seoul 03080, Korea

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抄録

The CAG repeat length of the androgen receptor (AR) gene, which exhibits an inverse relationship to AR sensitivity, might influence the development of the pubarche along with hyperandrogenemia. There are ethnic differences in the AR CAG repeat length, however, no Asian studies on premature pubarche (PP) have been reported, including Korea. Our objectives were to examine the hormone levels and AR CAG repeat length, and to assess their contributions to PP in Korean girls. Subjects with PP (n=16) and normal pubarche (NP, n=16), and normal controls (NC, n=16) were enrolled. The levels of dehydroepiandrosterone (DHEA), dehydroepiandrosterone-sulfate (DHEAS), 17-hydroxyprogesterone (17-OHP), and free testosterone (FT) were checked. The methylation-weighted (MW) average CAG repeat lengths were analyzed. The median ages at pubarche were 7.4 and 8.9 years in the PP and NP groups, respectively, and the levels of 17-OHP, DHEAS, and FT were similar in both groups. The PP group exhibited a higher DHEAS:DHEA ratio than the NP group (P=0.014). The medians of the MW average CAG repeat length of the AR gene were 22.4 for all subjects and did not differ among the PP (22.3), NP (22.4), and NC (22.2) groups. The AR CAG repeat lengths in the PP and NP groups did not correlate with DHEAS or FT levels. These results suggest that the AR CAG repeat length was not involved in the development of PP in Korean girls. However, excessive adrenal androgen levels, particularly those caused by increased sulfotransferase activity, might be important in the pathogenesis of PP.

収録刊行物

  • Endocrine Journal

    Endocrine Journal 64 (1), 91-102, 2017

    一般社団法人 日本内分泌学会

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