دورية أكاديمية
Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report
| العنوان: | Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report |
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| المؤلفون: | Yunling Tian, Lijie Hou, Shulan Xiang, Xuguang Tian, Jinhui Xu |
| المصدر: | Gynecological Endocrinology, Vol 39, Iss 1 (2023) |
| بيانات النشر: | Taylor & Francis Group, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Gynecology and obstetrics LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: | congenital adrenal hyperplasia (CAH, 17 α-hydroxylase deficiency(17α-OHD, 17, 20 lyase, Gynecology and obstetrics, RG1-991, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: | Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a related enzyme deficiency involved in the adrenal corticosteroid synthesis pathway due to genetic mutations. 17α-hydroxylase deficiency(17α-OHD) is a rare form of CAH. Herein, we reported clinical data on diagnosis and treatment regimens for a 17α-hydroxylase-deficient patient. A 24-year-old female patient was admitted to the hospital with limb numbness for 7 days and sudden limb weakness. Full laboratory and radio-imaging investigations showed hypokalemia and abdominal occupation. Abnormal rhythm of cortisol(Cor) and adrenocorticotrophic hormone (ACTH)was observed. The diagnosis was confirmed by molecular mutation detection, which showed a homozygous mutation of c.987del in the 17-hydroxylase/17,20-lyase deficiency (17OHD) lease-related CYP17A1 from both biological parents. The patient was treated with prednisone acetate and estradiol valerate. After one year of treatment with predisoone acetate and estradiol valerate, the patient had normal menstruation, increased blood potassium, estradiol and 24h-UFC, and decreased ACTH level. There is no significant change in large adrenal hyperplasia lesions although sexual characteristics and menstrual cycles have recovered. Through this case and literature review, it can be concluded that CAH with 17α-OHD can be diagnosed according to the genetic detection. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 09513590 1473-0766 0951-3590 |
| Relation: | https://doaj.org/toc/0951-3590; https://doaj.org/toc/1473-0766 |
| DOI: | 10.1080/09513590.2023.2250001 |
| URL الوصول: | https://doaj.org/article/822329eca32a484284808aa965999bd5 |
| رقم الأكسشن: | edsdoj.822329eca32a484284808aa965999bd5 |
| قاعدة البيانات: | Directory of Open Access Journals |
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Full Text Finder | تدمد: | 09513590 14730766 |
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| DOI: | 10.1080/09513590.2023.2250001 |