دورية أكاديمية
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
| العنوان: | Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD |
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| المؤلفون: | Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler |
| المصدر: | JCRPE, Vol 14, Iss 2, Pp 153-171 (2022) |
| بيانات النشر: | Galenos Yayincilik, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Pediatrics LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: | 46, xy disorders of sex development, 5α, -reductase deficiency, androgen insensitivity syndrome, androgen receptor gene mutations, srd5a2 gene mutations, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: | INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5α-RD. METHODS: Methods: Patients diagnosed as AIS or 5α-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-α-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of ≥20, whereas the androgen receptor (AR) gene was screened when the ratio was T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects. DISCUSSION AND CONCLUSION: Conclusion: T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular diagnosis is important for the robust diagnosis of 46,XY DSD patients. Four novel AR variants were identified in our study. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1308-5727 1308-5735 |
| Relation: | https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-83702&look4=; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735 |
| DOI: | 10.4274/jcrpe.galenos.2022.2021-9-19 |
| URL الوصول: | https://doaj.org/article/860a70dc14c9409aacfb6b3de305c261 |
| رقم الأكسشن: | edsdoj.860a70dc14c9409aacfb6b3de305c261 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 13085727 13085735 |
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| DOI: | 10.4274/jcrpe.galenos.2022.2021-9-19 |