Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Metabolic effects of dopamine agonists in patients with prolactinomas: a systematic review and meta-analysis

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Measurement of urinary 5-HIAA: correlation between spot versus 24-h urine collection

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. GIP-induced vasodilation in human adipose tissue involves capillary recruitment

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Cross-sectional analysis of sleep hours and quality with sex hormones in men

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Using human genetics to understand the disease impacts of testosterone in men and women

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

OBJECTIVE: 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 the UGT2B17 gene. In a preliminary report, we found that homozygous deletion of UGT2B17 in 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. Design, Participants and Measures: 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 for UGT2B17 copy number variation (CNV). Clinical pubertal staging including orchidometry, anthropometry and serum reproductive hormone levels.

RESULTS: 59 of the 668 boys (8.8%) presented with a homozygous deletion of UGT2B17 (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 of UGT2B17 (del/ins) vs. 12.06 years (11.79-12.33) in boys with the wildtype genotype (ins/ins) (p=0.029, corrected for BMI z-score). The effect accounted for 0.34 years delay per allele (95%CI: 0.03-0.64). A comparable trend was observed for onset of testicular enlargement >3ml but did not reach significance.

CONCLUSION: CNV of UGT2B17 is a factor contributing to the timing of male pubarche.

Original languageEnglish
JournalEndocrine Connections
Volume7
Issue number3
Pages (from-to)460-465
ISSN2049-3614
DOIs
Publication statusPublished - 2018

    Research areas

  • Journal Article

ID: 52793321