Klin Padiatr 2002; 214(5): 314-316
DOI: 10.1055/s-2002-34015
© Georg Thieme Verlag Stuttgart · New York

Schwere 46,XY Virilisierungsstörung durch 17β-Hydroxysteroid Dehydrogenase 3 Mangel

Severe 46,XY Virilization Deficit due to 17β-hydroxysteroid dehydrogenase deficiencyW.  Twesten1 , R.  Johannisson2 , P.-M.  Holterhus1 , O.  Hiort1
  • 1Klinik für Kinder- und Jugendmedizin
  • 2Institut für Pathologie, Universitätsklinikum Lübeck
Further Information

Publication History

Publication Date:
23 September 2002 (online)


Background: 17β 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 17β-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 17β-hydroxysteroid dehydrogenase deficiency.


Prof. Dr. Olaf Hiort

Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Lübeck

Ratzeburger Allee 160

23538 Lübeck

Phone: + 49-51-500-2191

Fax: + 49-451-500-6867

Email: hiort@paedia.ukl.mu-luebeck.de