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

Autor: Siklar Z; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Türkiye., Camtosun E; Inonu University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Malatya, Türkiye., Bolu S; Bolu Abant Izzet Baysal University Faculty of Medicine, Department of Pediatric Endocrinology, Bolu, Türkiye., Yildiz M; Istanbul University Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Türkiye., Akinci A; Inonu University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Malatya, Türkiye., Bas F; Istanbul University Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Türkiye., Dündar İ; Inonu University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Malatya, Türkiye., Bestas A; Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Türkiye., Ünal E; Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Türkiye., Kocaay P; Ankara Bilkent City Hospital, Clinic of Pediatric Endocrinology, Ankara, Türkiye., Guran T; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Istanbul, Türkiye., Buyukyilmaz G; Ankara Bilkent City Hospital, Clinic of Pediatric Endocrinology, Ankara, Türkiye., Ugurlu AK; Ankara Bilkent City Hospital, Clinic of Pediatric Endocrinology, Ankara, Türkiye. aylin@ugurlu.org., Tosun BG; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Istanbul, Türkiye., Turan I; Cukurova University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, Türkiye., Kurnaz E; Ankara Etlik City Hospital, Clinic of Pediatric Endocrinology, Ankara, Türkiye., Yuksel B; Cukurova University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, Türkiye., Turkkahraman D; University of Health Sciences, Antalya Training and Resarch Hospital, Clinic of Pediatric Endocrinology, Antalya, Türkiye., Cayir A; University of Health Sciences, Erzurum Training and Resarch Hospital, Clinic of Pediatric Endocrinology and Diabetes, Erzurum, Turkey., Celmeli G; University of Health Sciences, Antalya Training and Resarch Hospital, Clinic of Pediatric Endocrinology, Antalya, Türkiye., Gonc EN; Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatric Endocrinology, Ankara, Türkiye., Eklioğlu BS; Necmettin Erbakan University Faculty of Medicine, Department of Pediatric Endocrinology, Konya, Türkiye., Cetinkaya S; University of Health Sciences, Dr Sami Ulus Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Türkiye., Yilmaz SK; University of Health Sciences, Haseki Training and Research Hospital, Clinic of Pediatric Endocrinology, Istanbul, Türkiye., Atabek ME; Necmettin Erbakan University Faculty of Medicine, Department of Pediatric Endocrinology, Konya, Türkiye., Buyukinan M; Selcuk University Faculty of Medicine, Department of Pediatric Endocrinology, Konya, Türkiye., Arslan E; Ege University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Izmir, Türkiye., Mengen E; Ankara Training and Research Hospital, Ankara, Türkiye., Cakir EDP; University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Resarch Hospital, Clinic of Pediatric Endocrinology, Istanbul, Türkiye., Karaoglan M; Gaziantep University Faculty of Medicine,, Department of Pediatric Endocrinology, Gaziantep, Türkiye., Hatipoglu N; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Türkiye., Orbak Z; Ataturk University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Erzurum, Türkiye., Ucar A; University of Health Sciences, Şişli Hamidiye Etfal Training and Resarch Hospital, Clinic of Pediatric Endocrinology, İstanbul, Türkiye., Akyurek N; Baskent University Faculty of Medicine, Department of Pediatric Endocrinology, Konya, Türkiye., Akbas ED; Bursa Dortcelik Children's Hospital, Bursa, Türkiye., Isik E; Gaziantep Children's Hospital, Gaziantep, Türkiye., Kaygusuz SB; Kahramanmaras Necip Fazil City Hospital, Kahramanmaraş, Türkiye., Sutcu ZK; Basaksehir Cam and Sakura City Hospital, Clinic of Pediatric Endocrinology, İstanbul, Türkiye., Seymen G; University of Health Sciences, Umraniye Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Türkiye., Berberoglu M; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Türkiye.
Jazyk: angličtina
Zdroj: Endocrine [Endocrine] 2024 Sep; Vol. 85 (3), pp. 1407-1416. Date of Electronic Publication: 2024 Jul 17.
DOI: 10.1007/s12020-024-03962-6
Abstrakt: Purpose: 17α 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.
Methods: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.
Results: Mean 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.
Conclusion: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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