ESPEYB21 13. Global Health for the Paediatric Endocrinologist Endocrinology (7 abstracts)
13.9. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort
Siklar Z , Camtosun E , Bolu S , Yildiz M , Akinci A , Bas F , Dündar İ , Bestas A , Ünal E , Kocaay P , Guran T , Buyukyilmaz G , Ugurlu AK , Tosun BG , Turan I , Kurnaz E , Yuksel B , Turkkahraman D , Cayir A , Celmeli G , Gonc EN , Eklioğlu BS , Cetinkaya S , Yilmaz SK , Atabek ME , Buyukinan M , Arslan E , Mengen E , Cakir EDP , Karaoglan M , Hatipoglu N , Orbak Z , Ucar A , Akyurek N , Akbas ED , Isik E , Kaygusuz SB , Sutcu ZK , Seymen G & Berberoglu M
Endocrine. 2024 Jul 17. doi: 10.1007/s12020-024-03962-6. PMID: 39020240.
Brief Summary: This retrospective cohort study analyzed data from 97 cases of 17α hydroxylase/17,20 lyase deficiency identified in Turkey. It focused on diagnostic testing, laboratory characteristics, long-term outcomes and therapeutic management.
This nationwide study focuses on 17α-Hydroxylase/17,20-Lyase deficiency (17OHD), a rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. The research aims to evaluate the clinical, biochemical, and genetic characteristics of 97 patients with 17OHD in Turkey, one of the largest studies of its kind.
Patients were recruited from 32 pediatric endocrinology centers across Turkey. Retrospective data included physical examination, hormone assays, genetic findings, and follow-up information. All cases had genetically confirmed CYP17A1 gene mutations. The 97 cases identified came from 78 families. 59 cases (60.8%) had 46,XY karyotype and 38 (39.1%) had 46,XX karyotype. Most patients (94%) were raised as females, and many presented with primary amenorrhea (n=46) or delayed puberty (n=45). Hypertension was detected in 65% of patients, and 34% had hypokalemia. There was a high rate of consanguinity (affecting 87 patients in 78 families).
The most common mutation was a homozygous deletion in Exon 1–6 of the CYP17A1 gene, found in 42 cases (45.8%). Two different previously reported large deletions were found in 3 siblings. Other mutations, mainly point mutations, were also identified and generally concentrated in Exon 1 and Exon 6. No significant genotype-phenotype correlation was found.
These findings highlight the importance of early diagnosis and management of 17OHD, particularly in populations with high rates of consanguinity. Hypertension and hypokalemia are key indicators for early diagnosis with the most common presentation being an adolescent girl without secondary sexual characteristics or menses and low-renin hypertension. Genetic testing should prioritize the detection of large deletions in the CYP17A1 gene. This research provides valuable insights into the clinical management and genetic landscape of 17OHD and underscores the need for continued research into the genotype-phenotype correlations of this rare condition.
References: 1. R.J. Auchus, Steroid 17-hydroxylase and 17, 20-lyase deficiencies, genetic and pharmacologic. J. Steroid Biochem. Mol. Biol. (2017).2. Y. Xu, S. Jiang, Z. Yan, Y. Niu, W. Du, B. Liu, B. Han, X. Liu, S. Zhao, H. Song, Y. Kuang, J. Qiao, Phenotypic heterogeneity and fertility potential of patients with 17-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab. (2022).
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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