Intractable Rare Dis Res. 2020;9(3):141-144. (DOI: 10.5582/irdr.2020.03065)

An extremely rare combination of acute intermittent porphyria and Turner syndrome

Zhang SY, Wu JH, Teng Q, Zhang YR, Hu YX, Kang NL


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.

KEYWORDS: acute intermittent porphyrin (AIP), Turner syndrome, HMBS gene, isochromosome, depression

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