ESPE2024 Poster Category 1 Pituitary, Neuroendocrinology and Puberty 2 (9 abstracts)
Androgen Receptor Cag Repeat Polymorphism Might Be A Possible Cause of Familial Constitutional Delay in Growth and Puberty
Gözde Akın Kağızmanlı 1 , Reyhan Deveci Sevim 2 , Hayrullah Manyas 3 , Ahu Paketçi 4 , Korcan Demir 1 , Ece Böber 1 , Gönül Çatlı 5 , Ahmet Anık 2 & Ayhan Abacı 1
1Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey. 2Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatric Endocrinology, Aydın, Turkey. 3Şanlıurfa Training and Research Hospital, Pediatric Endocrinology, Şanlıurfa, Turkey. 4Medipol Bahçelievler Hospital, Pediatric Endocrinology, İstanbul, Turkey. 5İstinye University Faculty of Medicine, Pediatric Endocrinology, İstanbul, Turkey
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.
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