[Second prenatal diagnosis in a familial form of male pseudohermaphroditism caused by 17 keto-reductase deficiency: prediction confirmed by a normal third male infant].
In the first child of this family, the diagnosis of male pseudo-hermaphroditism due to 17 keto-reductase deficiency was established at two months of age after HCG test. During the second pregnancy, amniocentesis was performed for fetal karyotype and steroid determination in the amniotic fluid: an affected male fetus was suspected and this prediction was confirmed at birth. For the third pregnancy, a prenatal diagnosis was requested again and made, according to the same procedure: a normal male fetus was predicted and this diagnosis was confirmed at birth; this study demonstrates the feasibility and reliability of a prenatal diagnosis for 17 keto-reductase deficiency.
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000653:Amniotic Fluid / Q000201:enzymology; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013739:Testosterone / Q000096:biosynthesis
D013739:Testosterone; D015067:17-Hydroxysteroid Dehydrogenases
Deuxième diagnostic prénatal dans une forme familiale de pseudo-hermaphrodisme masculin par déficit en 17 céto-réductase: prédiction confirmée d'un troisième enfant mâle normal.