17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

ŞIKLAR, ZEYNEP; ÇAMTOSUN, EMİNE; Bolu, Semih; Yildiz, Melek; AKINCI, AYŞEHAN; Bas, Firdevs; DÜNDAR, İSMAİL; Bestas, Asli; Unal, Edip; Kocaay, Pinar; GÜRAN, TÜLAY; Buyukyilmaz, Gonul; Ugurlu, Aylin Kilinc; GÜRPINAR TOSUN, BUŞRA; TURAN, İHSAN; Kurnaz, Erdal; YÜKSEL, BİLGİN; Turkkahraman, Doga; Çayır, Atilla; Celmeli, Gamze; GÖNÇ, ELMAS NAZLI; Eklioglu, Beray Selver; Cetinkaya, Semra; Yilmaz, Seniha Kiremitci; Atabek, Mehmet Emre; Buyukinan, Muammer; ARSLAN, EMRULLAH; Mengen, Eda; Cakir, Esra Deniz Papatya; Karaoglan, Murat; HATİPOĞLU, NİHAL; Orbak, Zerrin; Ucar, Ahmet; Akyurek, Nesibe; Akbas, Emine Demet; Isik, Emregul; Kaygusuz, Sare Betul; Sutcu, Zumrut Kocabey; Seymen, Gulcan; BERBEROĞLU, MERİH

doi:10.1007/s12020-024-03962-6

Makale Tam Makale Uluslararası 2024

17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

ZEYNEP ŞIKLAR, EMİNE ÇAMTOSUN, Semih Bolu, Melek Yildiz, AYŞEHAN AKINCI, Firdevs Bas, İSMAİL DÜNDAR, Asli Bestas, Edip Unal, Pinar Kocaay, TÜLAY GÜRAN, Gonul Buyukyilmaz, Aylin Kilinc Ugurlu, BUŞRA GÜRPINAR TOSUN, İHSAN TURAN, Erdal Kurnaz, BİLGİN YÜKSEL, Doga Turkkahraman, Atilla Çayır, Gamze Celmeli, ELMAS NAZLI GÖNÇ, Beray Selver Eklioglu, Semra Cetinkaya, Seniha Kiremitci Yilmaz, Mehmet Emre Atabek, Muammer Buyukinan, EMRULLAH ARSLAN, Eda Mengen, Esra Deniz Papatya Cakir, Murat Karaoglan, NİHAL HATİPOĞLU, Zerrin Orbak, Ahmet Ucar, Nesibe Akyurek, Emine Demet Akbas, Emregul Isik, Sare Betul Kaygusuz, Zumrut Kocabey Sutcu, Gulcan Seymen, MERİH BERBEROĞLU

Endocrine Cilt 85 · Sayı 3 · ss. 1407–1416 · 01.09.2024

DOI ile aç

Özet

Purpose17 alpha Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.MethodsData from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.ResultsMean age at admission was 13.54 +/- 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.ConclusionThis 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.

Anahtar kelimeler

FINAL HEIGHT 17α hydroxylase 17 20 congenital adrenal hyperplasia CYP17A1 delayed puberty lyase deficiency

Atıf için künye

ŞIKLAR, Z., ÇAMTOSUN, E., Bolu, S., Yildiz, M., AKINCI, A., Bas, F., DÜNDAR, İ., Bestas, A., Unal, E., Kocaay, P., GÜRAN, T., Buyukyilmaz, G., Ugurlu, A. K., GÜRPINAR TOSUN, B., TURAN, İ., Kurnaz, E., YÜKSEL, B., Turkkahraman, D., Çayır, A., … BERBEROĞLU, M. (2024). 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort. Endocrine, 85(3), 1407–1416. https://doi.org/10.1007/s12020-024-03962-6

BibTeX

@article{siklar2024-223569,
  author = {ŞIKLAR, ZEYNEP and ÇAMTOSUN, EMİNE and Bolu, Semih and Yildiz, Melek and AKINCI, AYŞEHAN and Bas, Firdevs and DÜNDAR, İSMAİL and Bestas, Asli and Unal, Edip and Kocaay, Pinar and GÜRAN, TÜLAY and Buyukyilmaz, Gonul and Ugurlu, Aylin Kilinc and GÜRPINAR TOSUN, BUŞRA and TURAN, İHSAN and Kurnaz, Erdal and YÜKSEL, BİLGİN and Turkkahraman, Doga and Çayır, Atilla and Celmeli, Gamze and GÖNÇ, ELMAS NAZLI and Eklioglu, Beray Selver and Cetinkaya, Semra and Yilmaz, Seniha Kiremitci and Atabek, Mehmet Emre and Buyukinan, Muammer and ARSLAN, EMRULLAH and Mengen, Eda and Cakir, Esra Deniz Papatya and Karaoglan, Murat and HATİPOĞLU, NİHAL and Orbak, Zerrin and Ucar, Ahmet and Akyurek, Nesibe and Akbas, Emine Demet and Isik, Emregul and Kaygusuz, Sare Betul and Sutcu, Zumrut Kocabey and Seymen, Gulcan and BERBEROĞLU, MERİH},
  title = {17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort},
  journal = {Endocrine},
  year = {2024},
  volume = {85},
  number = {3},
  pages = {1407--1416},
  issn = {1559-0100},
  doi = {10.1007/s12020-024-03962-6},
  url = {https://akademik.atauni.edu.tr/yayinlar/223569-17a-hydroxylase1720-lyase-deficiency-clinical-features-and-genetic-insights-from}
}