Serum AMH levels are lower in healthy boys who develop pubertal gynaecomastia

TY - ABST

T1 - Serum AMH levels are lower in healthy boys who develop pubertal gynaecomastia

AU - Mieritz, Mikkel G.

AU - Hagen, Casper P.

AU - Almstrup, Kristian

AU - Petersen, Jørgen Holm

AU - Raket, Lars Lau

AU - Sommer, Stefan Horst

AU - Juul, Anders

N1 - Conference code: 54

PY - 2015

Y1 - 2015

N2 - Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-mullerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieritz et al., Clin Endocrinol, 2013). Objective and hypotheses: To investigate serum AMH levels and genetic polymorphisms in boys with or without gynaecomastia. Method: 99 healthy Danish boys (aged 5.8-16.4 years) were followed in a prospective cohort over 8 years with semi-annual examinations (total examinations, n=951), including breast palpations and blood samples. Serum AMH concentrations were analysed by immunoassay (Beckman Coulter). Furthermore, we analysed two single nucleotide polymorphisms (SNPs) located in exon 1 of the gene encoding AMH (AMH rs10407022 (Table Presented)>G) and in a putative enhancer of the AMH-receptor (AMHR2 rs11170547 C>T) respectively. Results: Pubertal gynaecomastia was observed in 47/95 (49%) of the boys during follow-up. Circulating levels of AMH were significantly lower in boys with pubertal gynaecomastia compared to boys without - even after controlling for pubertal stage (P2) or AMH-receptor SNPs (CC vs CT, P=0.963). Conclusion: This is to our knowledge the first longitudinal study to find an association between low serum levels of AMH and the development of pubertal gynaecomastia. We speculate that this might be due to impaired testicular function in these boys.

AB - Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-mullerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieritz et al., Clin Endocrinol, 2013). Objective and hypotheses: To investigate serum AMH levels and genetic polymorphisms in boys with or without gynaecomastia. Method: 99 healthy Danish boys (aged 5.8-16.4 years) were followed in a prospective cohort over 8 years with semi-annual examinations (total examinations, n=951), including breast palpations and blood samples. Serum AMH concentrations were analysed by immunoassay (Beckman Coulter). Furthermore, we analysed two single nucleotide polymorphisms (SNPs) located in exon 1 of the gene encoding AMH (AMH rs10407022 (Table Presented)>G) and in a putative enhancer of the AMH-receptor (AMHR2 rs11170547 C>T) respectively. Results: Pubertal gynaecomastia was observed in 47/95 (49%) of the boys during follow-up. Circulating levels of AMH were significantly lower in boys with pubertal gynaecomastia compared to boys without - even after controlling for pubertal stage (P2) or AMH-receptor SNPs (CC vs CT, P=0.963). Conclusion: This is to our knowledge the first longitudinal study to find an association between low serum levels of AMH and the development of pubertal gynaecomastia. We speculate that this might be due to impaired testicular function in these boys.

KW - European

KW - Sertoli cell

KW - allele

KW - androgen

KW - blood level

KW - blood sampling

KW - boy

KW - breast

KW - cross sectional study

KW - endocrine disease

KW - endocrinology

KW - enhancer region

KW - estrogen

KW - examination

KW - exon

KW - follow up

KW - gene

KW - genetic polymorphism

KW - gynecomastia

KW - hormone

KW - human

KW - hypothesis

KW - immunoassay

KW - longitudinal study

KW - male

KW - maturation

KW - palpation

KW - puberty

KW - receptor

KW - salicylate sodium

KW - serum

KW - single nucleotide polymorphism

KW - society

KW - testis function

KW - testosterone

U2 - 10.1159/000437032

DO - 10.1159/000437032

M3 - Conference abstract in journal

C2 - 72085906

SN - 1663-2818

VL - 84

SP - 290

EP - 291

JO - Hormone Research in Paediatrics

JF - Hormone Research in Paediatrics

IS - Supplement 1

M1 - P2-526

T2 - 54th Annual Meeting of the European Society for Paediatric Endocrinology

Y2 - 1 October 2015 through 3 October 2015

ER -