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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender

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  1. Telemedicin til monitorering af inflammatoriske tarmsygdomme og colon irritabile

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  2. Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn.

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  3. Behandling af tymom og thymuskarcinom

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  4. Kønsmodificerende kirurgi i Danmark

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  5. Osmotisk demyeliniseringssyndrom

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  1. Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn.

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Balanced translocation in a patient with abortus habitualis and normal karyotype

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  3. Mortality and morbidity of major congenital heart disease related to general prenatal screening for malformations

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  4. Targeted Rhesus immunoglobulin for RhD negative women undergoing an induced abortion: a clinical pilot study

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In this case report, a pregnant woman chose non-invasive prenatal testing (NIPT) following a combined first-trimester screening showing a risk of trisomy 21 at 1:200. The NIPT was normal, and the sex of the fetus was predicted to be male. At 20 gestational weeks, an ultrasound examination predicted the fetus to be female. Because of these discordant results, an amniocentesis was offered but declined. The child was postnatally tested with a karyotype: 46,XY and found heterozygous for a pathogenic variant in the androgen receptor gene, which may cause partial or complete androgen insensitivity syndrome.

Original languageEnglish
JournalUgeskrift for Laeger
Volume181
Issue number51
ISSN0041-5782
Publication statusPublished - 16 Dec 2019

ID: 59064636