![]() Echocardiographic assessment of the child revealed that he also suffered from patent ductus arteriosus (PDA), tricuspid regurgitation, pulmonary hypertension, and atrial septal defect (ASD). Analysis of the chromosomal karyotype of this family showed 46,XX with 320 to 400 bands without any abnormality (mother) (Fig. There was no other identifiable external anomaly. ![]() ![]() The anal opening was located normally, and no urethral orifice could be identified (Fig. At local examination, there was a total absence of the penis however, the scrotum was well developed, and the testes were palpable bilaterally (Fig. When he was born, he was registered as a boy due to his chromosomes being 46XY, although he had 9qh+. A 3-month-old was brought to our hospital by his parents with the complaints of an absence of penis since birth and urine being passed rectally.
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