case_images: PMC10692439_01
case_images: Contrast-enhanced computed tomography of the abdomen showing bilateral adrenal hyperplasia (red arrows).
case_images: JAFES-38-2-131-g001.jpg
case_images: PMC10692439_01_JAFES-38-2-131-g001.jpg
case_images: f0001
case_images: Computed tomography of the abdomen (Figure 1) showed bilaterally enlarged adrenals and absent Mullerian structures, thus reinforcing the karyotype confirmation of 46,XY DSD.
case_images: The NGS reads were aligned to hg19 reference genome and viewed on Integrative Genomics Viewer (IGV.2.9.4) as seen in the top image. The gray reads show homozygous deletion of three base pairs (GAA) at codon 54 in exon1 CYP17A1(NM_000102.4):c.160_162del (p.Phe54del). The below image shows the sanger chromatogram of CYP17A1:P.Phe54del corroborating the NGS results with homozygous deletion of three base pairs (GAA) at codon 54.
case_images: JAFES-38-2-131-g002.jpg
case_images: PMC10692439_01_JAFES-38-2-131-g002.jpg
case_images: f0002
case_images: Phe54del) in exon one, as shown in Figure 2.