一例罕见的儿童类固醇 11 β-羟化酶缺乏症，表现为急性肺水肿。

IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Oxford Medical Case Reports Pub Date : 2024-05-20 eCollection Date: 2024-05-01 DOI:10.1093/omcr/omae042

Zohair El Haddar, Aziza El Ouali, Ayad Ghanam, Noufissa Benajiba, Maria Rkain, Abdeladim Babakhouya

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引用次数: 0

摘要

我们报告了一例 5 岁男童的病例，他被诊断为因 11- 羟化酶缺乏而导致的先天性肾上腺皮质增生症，并伴有性发育障碍（DSD）和严重高血压导致的急性肺水肿。我们根据生物学和放射学检查做出了诊断。社会文化背景和诊断延迟对治疗决定有重大影响。所有婴儿都应接受 11 β-羟化酶缺乏症筛查，应设立专门的跨学科医疗中心，早期发现对避免该疾病的严重并发症至关重要。

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A rare case of steroid 11 beta-hydroxylase deficiency in a child revealed by acute pulmonary edema.

We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and acute pulmonary edema due to severe hypertension. We considered the diagnosis based on biological and radiological examinations. The sociocultural background and the delayed diagnosis had a significant impact on the therapeutic decisions. All babies should be screened for 11 beta-hydroxylase deficiency, there should be specialized and interdisciplinary medical centers, and early detection is essential to avoiding serious complications of this disease.

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来源期刊

Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-

CiteScore

0.90

自引率

0.00%

发文量

125

审稿时长

19 weeks

期刊介绍： Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.