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  • Title: [Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
    Author: Twesten W, Johannisson R, Holterhus PM, Hiort O.
    Journal: Klin Padiatr; 2002; 214(5):314-5. PubMed ID: 12235550.
    Abstract:
    BACKGROUND: 17beta hydroxysteroid dehydrogenase deficiency is a presumable rare cause for a severe virilization disorder in children with 46,XY karyotype due to a defect in the testicular testosterone biosynthesis from androstenedione. PATIENT: We report on a 14 year old child with 46,XY karyotype with a predominantly female phenotype. RESULTS: Hormonal analysis showed low values for androstenedione and testosterone before and after stimulation with human chorionic gonadotropin, however, the androstenedione/testosterone ratio was elevated. Molecular genetic analysis proved the diagnosis of 17beta-hydroxysteroid dehydrogenase deficiency due to a homozygous mutation (325+4 A-T) in the HSD17B3-gene, which leads to an aberrant splicing process. CONCLUSIONS: This case demonstrates that in addition to a meticulous steroid analysis a direct molecular genetic analysis can be helpful in the diagnosis of 17beta-hydroxysteroid dehydrogenase deficiency.
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