Abstract
In the index case, first child of the family, diagnosis of 17-ketosteroid reductase deficiency(17-KSRD) was made at 3 months of age on the response of testosterone(T) and Δ4-androstenedone(Δ4) after an hCG test : low levels (ng/dl) of T(101) but Δ4 values (394) 10 times greater than the normal mean. At that time, the mother being pregnant again, requested a prenatal diagnosis. The proposed protocol included fetal karyotype, amniotic fluid (AF) steroid analysis at mid-pregnancy and ultrasound follow up of the genitalia. Prior to this study, AF levels of T,Δ4 and individual Δ4/T ratio were determined in 150 controls. In normal pregnancies AF Δ4/T ratios are clearly (p < 0.01) lower in male(4±1.6) than in female(12.8±4.5)fetuses. Based on the results (46,XY, AF levels low for T(5.9), high for Δ4 (217) and extremely high Δ4/T ratio (36.8), no phallic growth at ultrasound) the fetus was predicted affected. 17-KSRD was confirmed after birth : female phenotype, testes palpable in labia majora, typical response to hCG(T : 16→140; Δ4: 48→601). At the mother's request the same protocol was used for prenatal diagnosis during the third pregnancy : karyotype was 46,XY but AF levels of T(14), Δ4 (57) and Δ4/T ratio (4.2) were normal for a male fetus ; apparently normal genitalia were observed at ultrasound. The prediction was confirmed, since the boy was perfectly normal at birth.
In conclusion. This study demonstrates for the first time the feasability of a prenatal diagnosis of 17-KSRD, as reported for an other testicular enzyme defect (17, 20-desmolase) (JCEM 1980, 50, 826).
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Forest, M., Nivelon-Chevallier, A., Tenenbaum, P. et al. 124 PRENATAL DIAGNOSIS OF 17-KETOSTEROID REDUCTASE DEFICIENCY. Pediatr Res 19, 624 (1985). https://doi.org/10.1203/00006450-198506000-00144
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DOI: https://doi.org/10.1203/00006450-198506000-00144