Santral erken pubertede MKRN3 geninin rolü

Yıl 2025, Cilt: 50 Sayı: 4, 1181 - 1186, 22.12.2025

Ezgi Burgaç , Leman Damla Kotan Gedik , İhsan Turan , Yılmaz Kor , Bilgin Yüksel

https://doi.org/10.17826/cumj.1659996

https://izlik.org/JA55ER94RN

Öz

Amaç: Santral erken puberte (SEP), hipotalamus-hipofiz-gonad aksının erken yaşta aktive olmasıyla ortaya çıkan bir tablodur ve kız çocuklarında daha sık görülmektedir. MKRN3 mutasyonları gibi bazı genetik faktörler tanımlanmış olsa da, bu faktörlerin SEP gelişimindeki rolü hâlâ tam olarak aydınlatılamamıştır. Bu çalışmada, MKRN3 geninin santral erken puberte gelişimindeki rolü araştırılmıştır.
Gereç ve Yöntem: Çalışmaya, santral erken puberte tanısı almış 70 hasta dâhil edildi. Hastaların demografik bilgileri, antropometrik ölçümleri ve laboratuvar verileri dosya kayıtlarından elde edilmiştir. MKRN3 genindeki patojenik varyantları belirlemek amacıyla, DNA izolasyonu yapılan 22 hastaya Sanger sekanslama yöntemiyle genetik analiz uygulanmıştır.
Bulgular: Çalışmaya dâhil edilen 70 hastanın 62’si (%88,5) kız, 8’i (%11,5) erkekti. Belirti başlangıç yaşı kızlarda ortalama 7,1 yıl, erkeklerde ise 5,7 yıl olarak belirlendi. Tanı yaşı ortalama olarak kızlarda 7,8 yıl, erkeklerde ise 5,9 yıl olarak saptandı. Genetik analiz yapılan hastaların ortalama yaşı 7,8 yıldı. Yapılan genetik analiz sonucunda, MKRN3 geninde patojenik varyanta rastlanmadı. Benign olarak sınıflandırılan rs2239669 varyantı, 11 hastada heterozigot ve 1 hastada homozigot olarak saptandı.
Sonuç: MKRN3 geninde yalnızca benign bir varyantın saptanması ve patojenik varyantların bulunmaması, çalışmaya dâhil edilen hastaların hiçbirinde aile öyküsünün olmaması ve hasta grubunun ortalama yaşının görece yüksek olmasıyla ilişkili olabilir. Çalışmanın başlıca kısıtlılıkları, genetik analiz yapılan hasta sayısının sınırlı olması ve santral erken puberte ile ilişkili diğer genlerin değerlendirilememesidir.

Anahtar Kelimeler

Erken ergenlik , Santral erken puberte , MKRN3 geni

The role of MKRN3 gene on central precocious puberty

https://izlik.org/JA55ER94RN

Öz

Purpose: Central precocious puberty (CPP), which is characterized by premature activation of the hypothalamus-pituitary-gonadal axis, is more common in girls. Although genetic factors, such as mutations in MKRN3, have been identified, their role in CPP remains a subject of investigation. This study aimed to evaluate the role of MKRN3 in CPP development.
Materials and Methods: This retrospective study included 70 patients with CPP. Demographic, anthropometric, and laboratory data were collected. Genetic analysis of MKRN3 pathogenic variants was performed in 22 patients using Sanger sequencing, following DNA isolation.
Results: Seventy patients were diagnosed with CPP, of which 62(88.5%) were female and 8(11.5%) were male. The mean age of symptom onset was 7.1 years for girls and 5.7 years for boys, with the mean age at diagnosis being 7.8 years and 5.9 years, respectively. The mean age of the patients in whom the mutations were investigated was 7.8 years. Genetic analysis revealed no pathogenic MKRN3 variants. The rs2239669 variant, classified as benign, was detected in 11 heterozygous and in one patient in homozygous form.
Conclusion: The detection of only a benign variant in MKRN3, with no pathogenic variants identified, may be attributed to the absence of a positive family history in all patients and the relatively higher mean age of the cohort. A limitation of this study is the small number of patients analyzed genetically and the inability to assess other genes related to central precocious puberty.

Anahtar Kelimeler

Early puberty , Central precocious puberty , MKRN3 gene

Kaynakça

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