Nivelon J L, Forest M G, Nivelon-Chevallier A, Sidaner I, Tenenbaum D
J Genet Hum. 1987 May;35(2-3):159-63.
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.
在这个家庭的第一个孩子中,因17-酮还原酶缺乏导致的男性假两性畸形诊断是在两个月大时通过人绒毛膜促性腺激素(HCG)检测确定的。在第二次怀孕期间,进行了羊膜穿刺术以检测胎儿核型并测定羊水中的类固醇:怀疑是一个受影响的男性胎儿,这一预测在出生时得到证实。对于第三次怀孕,再次按照相同程序进行了产前诊断并做出诊断:预测是一个正常男性胎儿,这一诊断在出生时也得到证实;这项研究证明了17-酮还原酶缺乏产前诊断的可行性和可靠性。