Etiology of ambiguous genitalia in newborns with XX karyotype: A cross-sectional observational study.

Abstract

Objective: To determine the etiology of ambiguous genitalia in newborn females with XX karyotype. Study Design: Cross Sectional Observational study. Setting: Children Hospital and Institute of Child Health Multan (CH& ICH). Period: July 2018 to December 2019. Material & Methods: Fifty two patients were enrolled after taking informed consent from parents/guardians. Various causes of ambiguous genitalia like CAH, maternal intake of virilizing drugs during pregnancy and isolated local genital defect were noted. Results: Out of 52 patients, mean gestational age was 38.23 ± 2.36 weeks and 10 (20.2 %) had gestational age up to 36 weeks while 42 (80.8%) had gestational age more than 36 weeks. Mean age was 12.37 ± 4.21 days. Mean weight was 2965.43 ± 412.23 grams while 24 (46.1%) had weight up to 2500 grams and 28 (53.9%) had weight more than 2500 grams. Congenital adrenal hyperplasia in our study cases was noted in 45 (86.5%). Congenital local genital defects in our study cases were noted in 6 (11.5%) while maternal ingestion of virilizing drugs during pregnancy was noted in 1 (2%). CAH was not associated with gestational age or weight of newborn with p value 0.680 and 0.595 respectively. Conclusion: Congenital adrenal hyperplasia in our study cases was the commonest reason of ambiguous genitalia in newborn females with XX karyotype followed by congenital local defects and maternal use of virilizing drugs. High index of suspicion is required for the diagnosis of potential life threatening disorder like CAH.