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Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by histopathological examination. The AR gene molecular analysis performed on the fetal DNA showed the presence of a c.2493C>T change in exon 4. The single nucleotide change resulted in a Q711X amino acid substitution within the AR ligand-binding domain of the protein that has never been described before in the literature. AIS is an important consideration in pregnancies that show sex discordance in ultrasonography and karyotype results with the opportunity to perform molecular analysis of the AR gene in order to confirm the diagnosis.

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The authors performed a color Doppler ultrasound examination of both renal and interlobar arteries of 15 pregnant women affected by pregnancy-induced hypertension. The pulsatility index (PI), the resistance index (RI) and the systolic/diastol-ic ratio (S/D) values were compared with those of 15 healthy pregnant women of the same gestational age and with those of 15 nonpregnant healthy women. The authors found a significant difference (p < 0.0001) for all parameters investigated in renal and interlobar arteries between healthy pregnant women and the other two groups. No difference was found between patients with pregnancy-induced hypertension and nonpregnant healthy women. In conclusion, color Doppler ultrasound examination of both renal and interlobar arteries seems to be important for understanding the etiopathogenesis of pregnancy-induced hypertension.