17-Hydroxylase Deficiency Syndrome Differential Diagnoses

Updated: Mar 16, 2021
  • Author: J Paul Frindik, MD, FACE; Chief Editor: Stephen Kemp, MD, PhD  more...
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Diagnostic Considerations

Impaired hepatic drug metabolism may be a problem in patients with P450 oxidoreductase (POR) deficiency, [13] but further study is necessary before specific recommendations can be made. Because patients with P450 oxidoreductase (POR) deficiency can present with multiple clinical manifestations and have defects in various steroidogenic enzymes, they may be mistakenly diagnosed. [31] Differentiating 17-hydroxylase deficiency syndrome from POR deficiency is important because patients with POR deficiency have the additional potential for adrenal insufficiency. [13, 14] POR deficiency should be suspected in patients with adrenal insufficiency and genital anomalies who have associated skeletal malformations.

The 46,XX karyotypes resemble Turner syndrome with Müllerian structures and absent secondary sexual characteristics; however, patients with 17-Hydroxylase (17-OH) deficiency syndrome lack the other Turner stigmata (lymphedema, wide carrying angle, cardiac defects) and are typically normal height or tall. [32]

The 46,XY karyotype somewhat resemble complete androgen insensitivity syndrome due to the blind vaginal pouch without Müllerian structures or body hair, but 17OH deficiency will respond to androgens if administered. [32]

Differential Diagnoses