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. 2018 Feb;7(2):347-354.
doi: 10.1530/EC-17-0299. Epub 2018 Jan 22.

The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls

Iben Katinka Greiber  1 , Casper P Hagen  2 , Alexander Siegfried Busch  2 , Mikkel Grunnet Mieritz  2 , Lise Aksglæde  2 , Katharina Main  2 , Kristian Almstrup  2 , Anders Juul  2
Affiliations

The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls

Iben Katinka Greiber et al. Endocr Connect. 2018 Feb.

Abstract

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 and AMHR2rs11170547 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 of AMH and AMHR2, pubertal staging and serum levels of reproductive hormones.

Results: AMHrs10407022T>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.

Keywords: anti-Mullerian hormone; anti-Mullerian hormone receptor; puberty; single-nucleotide polymorphism.

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Figures

Figure 1
Figure 1
Boys. (A) Serum AMH levels according to age stratified by AMH rs10407022 T>G, TT red; TG black; GG blue. (B) Serum AMH levels according to Tanner subgroups stratified by AMH rs10407022 T>G, TT red; TG black; GG blue. If multiple observations within a specific Tanner subgroup were available for the same boy, a mean value was calculated. In the boxplots medians are marked by thick black lines; boxes contain 50% of the distribution. Whiskers mark 2.5th–97.5th percentile.
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