The Značaj povišenog bazičnog 17 hidroksi progesterona u dijagnostici kongenitalne adrenalne hiperplazije kod dece

  • Vera Zdravković UDK Tiršova MFUB
  • Maja Ješić Univerzitetska dečja klinika
  • Jelena Miolski Bolnica Stefan Visoki, Smederevska Planka
  • Sonja Pavlović Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia
DOI: https://doi.org/10.5937/jomb0-54426
Ključne reči: 17-hidroksiprogesteron, kongenitalna adrenalna hiperplazija, prevremeni pubertet, CYP21A2 heterozigot, CYP21A2 gen.

Sažetak


Uvod: Kongenitalna adrenalna hiperplazija (KAH) je oboljenje u kom nedostatak 21α-hidroksilaze uzrokuje deficit kortizola i aldosterona, sa posledičnim nagomilavanjem 17-hidroksiprogesterona. Klasičnu i neklasičnu formu bolesti predstavljaju znaci preuranjenog puberteta (PP), ubrzanog telesnog i koštanog sazrevanja. Klinički znaci zahtevaju laboratorijsku (povišen bazalni i stimulisani 17-hidroksiprogesteron) i genetičku potvrdu konačne dijagnoze.

Cilj: Utvrditi značaj povišenog bazalnog 17-hidroksiprogesterona kod dece sa znacima prevremenog puberteta u potvrdi dijagnoze kongenitalne adrenalne hiperplazije.

Materijal i metode: Prospektivna studija sprovedena je u Univerzitetskoj dečijoj klinici i Institutu za molekularnu genetiku i genetičko inženjerstvo u Beogradu od 2019. do 2024. g. U studiji je učestvovalo 64 ispitanika oba pola, uzrasta do 18 godina, sa prevremenim pubertetom, ubrzanim koštanim i telesnim rastom, povišenim bazalnim 17-hidroksiprogesteronom, koji su podeljeni u dve grupe na osnovu prisustva/odsustva patogenih varijanti u genu CYP21A2. Obavljen je fizikalni pregled, antropometrijska merenja, procena skeletnog sazrevanja, uzeta krv za biohemijske i genetičku analizu, na osnovu kojih su ove dve grupe ispitanika upoređivane.

Rezultati: Istraživanjem je obuhvaćeno 64 ispitanika, podeljenih na dve grupe, sa  potvrđenom dijagnozom KAH (30 ispitanika) i sa PP kao kontrolnom grupom (34 ispitanika). Pokazana je statistički značajna razlika u bazalnom (p=0.000000807) i stimulisanom 17-hidroksiprogesteronu (p= 0.0125), kortizolu (p= 0.0148) i androstenedionu (p= 0.014) kod homozigotnih nosioca patogenih varijanti u genu CYP21A2.

Zaključak: Klinički i laboratorijski pokazatelji poput prevremenog puberteta i 17-hidroksiprogesterona mogu biti značajni indikatori nosioca varijanti odgovornih za razvoj kongenitalne adrenalne hiperplazije.

Reference

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2025/10/13
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Ahead of print
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Sva prava zadržana (c) 2025 Vera Zdravković

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