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Rigshospitalet - a part of Copenhagen University Hospital
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The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls

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OBJECTIVE: Fetal anti-Müllerian hormone (AMH) is responsible for normal male sexual differentiation, and circulating AMH is used as a marker of testicular tissue in newborns with disorders of sex development. Little is known about the mechanism of action in postnatal life. A recent genome wide association study (GWAS) reported genetic variation of AMH affecting AMH levels in young men. This study investigated the effect of genetic variation of AMH and AMH type II receptor (AMHR2) (AMHrs10407022 T>G andAMHR2rs11170547 C>T) on circulating reproductive hormone levels and pubertal onset in boys and girls.

DESIGN AND METHODS: This study is a combined longitudinal and cross-sectional study in healthy Danish boys and girls from the general population. We included 658 boys aged 5.8-19.8 years and 320 girls aged 5.6-16.5 years. The main outcome measures were genotyping ofAMHandAMHR2, pubertal staging and serum levels of reproductive hormones.

RESULTS: AMH rs10407022T>G was associated with higher serum levels of AMH in prepubertal boys (TT: 575 pmol/L vs TG: 633 pmol/L vs GG: 837 pmol/L,P = 0.002) and adolescents (TT: 44 pmol/L vs TG: 58 pmol/L vs GG: 79 pmol/L,P < 0.001). Adolescent boys carrying the genetic variation also had lower levels of LH (TT: 3.0 IU/L vs TG: 2.8 IU/L vs GG: 1.8 IU/L,P = 0.012). Hormone levels in girls and pubertal onset in either sex did not seem to be profoundly affected by the genotypes.

CONCLUSION: Our findings support recent GWAS results in young adults and expand our understanding of genetic variation affecting AMH levels even in boys prior to the pubertal decline of circulating AMH.

Original languageEnglish
JournalEndocrine Connections
Volume7
Issue number2
Pages (from-to)347-354
Number of pages8
ISSN2049-3614
DOIs
Publication statusPublished - Feb 2018

    Research areas

  • Journal Article

ID: 52821276