2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report

Figure 1 A color Doppler ultrasound examination. A: The downward arrow refers to the enlarged labia majora, which is easily mistaken for an empty scrotum. The arrow to the left refers to the labia minora, which is easily mistaken for a penis; B: Enlarged left adrenal gland; C: Enlarged right adrenal gland.

Figure 2 Standard operating instructions. A: Results of multiplex ligation-dependent probe amplification (MLPA) in children; B: MLPA result of the father of the child; C: MLPA results of the mother; D: MLPA result of the grandfather; and E: MLPA result of the grandmother.

Figure 3 Scheme of the genetic testing.