An extremely rare combination of acute intermittent porphyria and Turner syndrome

  • Zhang Songyun
    Endocrinology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
  • Wu Jiahong
    Department of Geriatrics, The First Affiliated Hospital of Hebei North University Zhangjiakou, Hebei, China.
  • Teng Qing
    Endocrinology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
  • Zhang Yiran
    The First Clinical Medical College Southern Medical University, Guangzhou, Guangdong, China.
  • Hu Yuanxiang
    Department of Geriatrics, The First Affiliated Hospital of Hebei North University Zhangjiakou, Hebei, China.
  • Kang Ninglin
    Hebei Provincial Hospital of Traditional Chinese Medicine, Shijiazhuang, Hebei, China.

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<p>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.</p>

収録刊行物

  • Intractable & Rare Diseases Research

    Intractable & Rare Diseases Research 9 (3), 141-144, 2020-08-31

    特定非営利活動法人 バイオ&ソーシャル・サイエンス推進国際研究交流会

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