PMC5941809_01
PMC5941809_02
Abdomen and pelvis CT scan. (a) The adrenal glands are enlarged bilaterally (red arrow); (b) gonads are not detectable.
CRIE2018-2086861.001.jpg
PMC5941809_02_CRIE2018-2086861.001.jpg
fig1
Fallopian tubes was shown, too (Figure 1(b)). Furthermore, the radiography of the left hand and wrist revealed that the ossification of the epiphysial cartilage of distal end of radius and ulna, 1st metacarpus, and phalanxes was not yet complete (Figure 2).
Left hand and wrist X-ray. The ossification of the epiphysial cartilage of distal end of radius and ulna, 1st metacarpus, and phalanxes is not yet complete.
CRIE2018-2086861.002.jpg
PMC5941809_02_CRIE2018-2086861.002.jpg
fig2
Fallopian tubes was shown, too (Figure 1(b)). Furthermore, the radiography of the left hand and wrist revealed that the ossification of the epiphysial cartilage of distal end of radius and ulna, 1st metacarpus, and phalanxes was not yet complete (Figure 2).
The adrenal steroid biosynthetic pathway: involved enzymes, hormones, and precursors. The "block" sites of hormone production in patients affected by 17alpha-hydroxylase/17,20-lyase deficiency are highlighted by the red stop signs.
CRIE2018-2086861.003.jpg
PMC5941809_02_CRIE2018-2086861.003.jpg
fig3
Overall, the clinical, laboratory, and imaging features were consistent with CAH caused by combined 17alpha-hydroxylase and 17,20-lyase deficiency, as suggested by very high progesterone levels and low 17-OH-progesterone and sex steroids values (Figure 3).