Deletion in the uridine diphosphate glucuronyltransferase 2B17 gene is associated with delayed pubarche in healthy boys

Endocrine Connections
A MouritsenAnders Juul

Abstract

Only a few genetic loci are known to be associated with male pubertal events. The ability of excreting testosterone (T) and other steroids in the urine depends on sulfation and glucuronidation. One of several essential glucuronidases is encoded by theUGT2B17gene. In a preliminary report, we found that homozygous deletion ofUGT2B17in boys was associated with lower urinary excretion of T. We hypothesized that boys with a lower glucuronidation capacity may have altered androgen action and excretion affecting pubarche, as this represents a T-dependent event. 668 healthy boys (cross-sectional) aged 6.1-21.9 years (COPENHAGEN puberty study conducted from 2005 to 2006) were included. 65 of the boys where followed longitudinally every 6 months. Participants were genotyped forUGT2B17copy number variation (CNV). Clinical pubertal staging including orchidometry, anthropometry and serum reproductive hormone levels. 59 of the 668 boys (8.8%) presented with a homozygous deletion ofUGT2B17(del/del). These boys experienced pubarche at a mean age of 12.73 years (12.00-13.46) vs 12.40 years (12.11-12.68) in boys heterozygous for deletion ofUGT2B17(del/ins) vs 12.06 years (11.79-12.33) in boys with the wild-type genotype (ins/ins) (P = 0.029, cor...Continue Reading

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Citations

Mar 2, 2019·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Jean-Philippe ÉmondEric Lévesque
Jan 5, 2020·Clinical Pharmacology and Therapeutics·Haeyoung ZhangBhagwat Prasad
Sep 8, 2021·Italian Journal of Pediatrics·Francesco BaldoGianluca Tornese

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SPSS
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