[Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
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.


METHODS
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.
Twesten
W
W
Klinik für Kinder- und Jugendmedizin.
Johannisson
R
R
Holterhus
P-M
PM
Hiort
O
O
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics*; D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D013737:Testis / Q000473:pathology
D015067:17-Hydroxysteroid Dehydrogenases