机构：[1]Endocrinology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.[2]Department of Geriatrics, The First Affiliated Hospital of Hebei North University Zhangjiakou, Hebei, China.[3]The First Clinical Medical College Southern Medical University, Guangzhou, Guangdong, China.[4]Hebei Provincial Hospital of Traditional Chinese Medicine, Shijiazhuang, Hebei, China.
A very rare case of acute intermittent porphyria (AIP) co-existing Turner syndrome (TS) is reported for the first time. A 32-year-old woman was diagnosed with AIP due to recurrent acute abdominal pain, red urine and pathogenic mutation of Hydroxymethyl synthetase (HMBS) gene. At the same time, TS was confirmed by Karyotype analysis results of 46,X,i(X)(q10), which accompanied by primary amenorrhea, elevated serum concentrations of follicle-stimulating hormone (FSH). Since the first attack of AIP, the patient has been increasingly depressed, and Psychiatry identified major depression. Duloxetine was chosen after careful deliberation, and the patient's mood stabilized. AIP had not recurred after half a year. Since sex hormones are the exacerbating factor of acute attack of AIP, sex hormone replacement therapy for TS was not administered. In conclusion, the conditions of AIP co-existing TS are complicate, and the treatment still needs to be improved by multiple disciplines in the follow-up.
2020, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.
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外文
PubmedID：
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最新[2025]版：
大类|4 区医学
小类|4 区医学：内科
第一作者：
第一作者机构：[1]Endocrinology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.[*1]Endocrinology, The Second Hospital of Hebei Medical University, Hebei 050000, China.
通讯作者：
通讯机构：[1]Endocrinology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.[*1]Endocrinology, The Second Hospital of Hebei Medical University, Hebei 050000, China.
推荐引用方式(GB/T 7714)：
Zhang Songyun,Wu Jiahong,Teng Qing,et al.An extremely rare combination of acute intermittent porphyria and Turner syndrome.[J].Intractable & rare diseases research.2020,9(3):141-144.doi:10.5582/irdr.2020.03065.
