Akademik Veri Yönetim Sistemi
62nd Annual ESPE (ESPE 2024), Liverpool, İngiltere, 16 - 18 Kasım 2024, ss.247, (Özet Bildiri)
Background: Being able to induce puberty through a short
course of low-dose testosterone therapy in boys with constitutional
delay of growth and puberty (CDGP) indicates a crucial
interaction between testosterone and androgen receptor (AR)
during the activation and maturation of the hypothalamic-pituitary-
gonadal axis at the onset of puberty. Previous studies have
indicated an inverse association between the CAG repeat length
and the transactivation function or expression level of the
AR gene.
Objective: We aimed to investigate whether the AR CAG
repeat polymorphism has any implications on pubertal delay.
Subjects and Methods: Fifty-three male patients with CDGP
were enrolled as the study group, and 53 healthy individuals who
had entered puberty on time and were similar in age were included
as the control group. The CAG repeat length was detected by direct
DNA sequencing analysis.
Results: The median chronological age of boys with CDGP was
14.0 (13.5–14.3) years, while it was 14.2 (13.65–14.8) years for
healthy subjects (p=0.09). In the CDGP group, 34 (64.2%) of the
children had a family history. There was no significant difference
between the groups in terms of AR CAG repeat length (median AR
CAG repeat length: 22 (20–24) and 20 (20–24), respectively,
p=0.07). However, in boys with CDGP with a similar family history
(n=34), a significantly longer AR CAG repeat length was found
compared to the control group (n=53) (median AR CAG repeat
length: 22 (20–24) and 20 (20–24), respectively, p=0.03).
Conclusion: Our findings suggest that the CAG repeat length
may be associated with familial CDGP.