Journalartikel

Jahr der Veröffentlichung: 2019

Seiten: 94-95

Zeitschrift: Transfusionsmedizin

Bandnummer: 9

Heftnummer: 2

ISSN: 2191-8805

eISSN: 2191-8813

DOI Link: https://doi.org/10.1055/a-0834-0221

Verlag: Georg Thieme Verlag

Abstract: 
We report about a 46-year-old male with more than 20 years history of chronic immune thrombocytopenia which was non-responsive to corticosteroids. Despite thrombocytopenia multiple surgeries were performed without any treatment and without increased bleeding. In our outpatient clinic the patient presented before testicular biopsy due to non-obstructive azoospermia and desire for fertility. Anamnesis revealed presenile cataract surgery in the age of 36 years and beginning high tone hearing loss. Laboratory testing demonstrated platelet count of 31 x 10(9)/L but no free or bound platelet autoantibodies by standard glycoprotein-specific assay were detected. Mean platelet volume was increased to 16.8 fL. Bernard Soulier syndrome was excluded. Diagnosis of MYH9 related disease (MYH9-RD) was based on identification of the granulocyte inclusion bodies using blood smears and confirmed by genotyping. Genetic testing of the MYH9 gene revealed c.5717C>T; p.Thr1906Met (heterozygous) and a heterozygous duplication of intron-exon-crossing to exon 37. Testicular biopsy was successful with preoperative treatment with desmopressin. MYH9-RD may be misdiagnosed as immune thrombocytopenia. The evaluation of a blood smear and MPV are central to distinguish between the two diseases.

Harvard-Zitierstil: Cooper, N., Sachs, U. and Heidinger, K. (2019) Delayed Diagnosis of MYH9-Related Disorder in a Man with Azoospermia and Desire for Fertility, Transfusionsmedizin, 9(2), pp. 94-95. https://doi.org/10.1055/a-0834-0221

APA-Zitierstil: Cooper, N., Sachs, U., & Heidinger, K. (2019). Delayed Diagnosis of MYH9-Related Disorder in a Man with Azoospermia and Desire for Fertility. Transfusionsmedizin. 9(2), 94-95. https://doi.org/10.1055/a-0834-0221