Congenital adrenal hyperplasia differential diagnosis

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Congenital adrenal hyperplasia main page

Overview

Classification

21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia

Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]

Overview

Congenital adrenal hyperplasia different types must be differentiated from androgen insensitivity syndrome, polycystic ovarian syndrome, hyperprolactinemia, cushing syndrome, and adrenal tumor.

Differentiating congenital adrenal hyperplasia from other diseases

Congenital adrenal hyperplasia must be differentiated from diseases that cause ambiguous genitalia:[1][2]

Disease name Laboratory tests Important clinical findings
Increased Decreased
Classic type of 21-hydroxylase deficiency
11-β hydroxylase deficiency
17-α hydroxylase deficiency
3β-Hydroxysteroid Dehydrogenase
Gestational hyperandrogenism

congenital adrenal hyperplasia must be differentiated from diseases that cause virilization and hirsutism in female:[3][2][4]

Disease name Steroid status Other laboratory Important clinical findings
Non-classic type of 21-hydroxylase deficiency Increased:

response to ACTH

  • No symptoms in infancy and male
11-β hydroxylase deficiency Increased:

Decreased:

3β-Hydroxysteroid Dehydrogenase Increased:

Decreased:

Polycystic ovary syndrome
Adrenal tumors
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome
Hyperprolactinemia

References

  1. Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT (2007). "Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development". Best Pract. Res. Clin. Endocrinol. Metab. 21 (3): 351–65. doi:10.1016/j.beem.2007.06.003. PMID 17875484.
  2. 2.0 2.1 White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
  3. Hohl A, Ronsoni MF, Oliveira M (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586. Vancouver style error: initials (help)
  4. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=