21-hydroxylase deficiency differential diagnosis

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Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]

Overview

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency must be differentiated from 11-β hydroxylase deficiency, 17-α hydroxylase deficiency, androgen insensitivity syndrome, polycystic ovarian syndrome, and adrenal tumor.

Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency classic type must be differentiated from diseases that cause ambiguous genitalia:

Disease name Steroid status Other laboratory Important distinguishing findings
Classic type of 21-hydroxylase deficiency Increased:
  • 17-OHP
  • Progesterone
  • Androstenedione
  • DHEA

Decreased:

  • Aldosterone
  • Corticosterone (salt-wasting)
  • Cortisol (simple virilizing)
11-β hydroxylase deficiency Increased:
  • DOC
  • 11-Deoxy-
  • cortisol

Decreased:

  • Cortisol
  • Corticosterone
  • Aldosterone
17-α hydroxylase deficiency Increased:
  • DOC
  • Corticosterone
  • Progesterone

Decreased:

  • Cortisol
  • Aldosterone
3β-Hydroxysteroid Dehydrogenase Increased:
  • DHEA
  • 17-OH pregneno-lone
  • Pregnenolone

Decreased:

  • Cortisol
  • Aldosterone
Gestational hyperandrogenism

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Non-classic type must be differentiated from diseases that cause virilization and hirsutism in female:

Disease name Elevated

Steroids

Decreased steroids Androgen status Important distinguishing findings
Non-classic type of 21-hydroxylase deficiency Increased:
  • 17-OHP
  • Exaggerated androstene-dione, DHEA, and 17-OHP

response to ACTH

11-β hydroxylase deficiency Increased:
  • DOC
  • 11-Deoxy-
  • cortisol

Decreased:

  • Cortisol
  • Corticosterone
  • Aldosterone
17-α hydroxylase deficiency Increased:
  • DOC
  • Corticosterone
  • Progesterone

Decreased:

  • Cortisol
  • Aldosterone
3β-Hydroxysteroid Dehydrogenase Increased:
  • DHEA
  • 17-OH pregneno-lone
  • Pregnenolone

Decreased:

  • Cortisol
  • Aldosterone
Polycystic ovary syndrome
  • Polycystic ovaries in sonography
  • Obesity
  • PCOS is the most common cause of hirsutism in women
  • No evidence another diagnosis
Adrenal tumors
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome.
hyperprolactinemia
Ovarian hyperthecosis 
Syndromes of severe insulin resistance

References