17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Zeynep SiklarEmine CamtosunSemih BoluMelek YildizAysehan AkinciFirdevs Basİsmail DündarAsli BestasEdip ÜnalPinar KocaayTulay GuranGonul BuyukyilmazAylin Kilinc UgurluBuşra Gurpinar TosunIhsan TuranErdal KurnazBilgin YukselDoga TurkkahramanAtilla CayirGamze CelmeliE Nazli GoncBeray Selver EklioğluSemra CetinkayaSeniha Kiremitci YilmazMehmet Emre AtabekMuammer BuyukinanEmrullah ArslanEda MengenEsra Deniz Papatya CakirMurat KaraoglanNihal HatipogluZerrin OrbakAhmet UcarNesibe AkyurekEmine Demet AkbasEmregül IsikSare Betul KaygusuzZumrut Kocabey SutcuGulcan SeymenMerih BerberogluPublished in: Endocrine (2024)
This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.