21-hydroxylase deficiency differential diagnosis

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

Overview

21-hydroxylase deficiency must be differentiated from 11-β hydroxylase deficiency, 17-α hydroxylase deficiency, androgen insensitivity syndrome, 3β-Hydroxysteroid Dehydrogenase, polycystic ovarian syndrome, hyperprolactinemia, cushing 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:[1][2]

Disease name Laboratory tests Important clinical findings
Increased Decreased
Classic type of 21-hydroxylase deficiency
  • 17-OHP
  • Progesterone
  • Androstenedione
  • DHEA
  • Aldosterone
  • Corticosterone (salt-wasting)
  • Cortisol (simple virilizing)
  • Ambigus genitalia in female
  • Virilization in female
  • Salt-wasting
  • Hypotension and hyperkalemia
11-β hydroxylase deficiency
  • DOC
  • 11-Deoxy-cortisol
  • 17-hydroxy-progestrone, mild elevation
  • Cortisol
  • Corticosterone
  • Aldosterone
  • Ambigus genitalia in female
  • Hypertension and hypokalemia
  • Virilization
17-α hydroxylase deficiency
  • DOC
  • Corticosterone
  • Progesterone
  • Cortisol
  • Aldosterone
  • Ambigus genitalia in male
  • Hypertension
  • Primary amenorrhea
  • Absence of secondary sexual characteristics
  • Minimal body hair
3β-Hydroxysteroid Dehydrogenase
  • DHEA
  • 17-OH pregneno-lone
  • Pregnenolone
  • Cortisol
  • Aldosterone
  • Vomiting, volume depletion, hyponatremia, and hyperkalemia
  • 46-XY infants often show undervirilization, due to a block in testosterone synthesis
Gestational hyperandrogenism
  • Maternal serum androgen concentrations (usually testosterone and androstenedione) are high
  • If virilization is caused by exogenous hormone administration, the values may be low because the offending hormone is usually a synthetic steroid not measured in assays for testosterone or other androgens
  • Androgen excess sign and symptoms in mother
  • History of androgen containing medication consumption during pregnancy in mother
  • Virilization in a 46,XX individual with normal female internal anatomy
  • Causes include maternal luteoma or theca-lutein cysts, and placental aromatase enzyme deficiency

21-hydroxylase deficiency Non-classic type 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:
  • 17-OHP
  • Exaggerated androstene-dione, DHEA, and 17-OHP

response to ACTH

  • Low testosterone levels
  • No symptoms in infancy and male
  • Virilization in females
11-β hydroxylase deficiency Increased:
  • DOC
  • 11-Deoxy-
  • cortisol

Decreased:

  • Cortisol
  • Corticosterone
  • Aldosterone
  • Low testosterone levels
  • Hypertension and hypokalemia
  • Virilization
3β-Hydroxysteroid Dehydrogenase Increased:
  • DHEA
  • 17-OH pregneno-lone
  • Pregnenolone

Decreased:

  • Cortisol
  • Aldosterone
  • Low testosterone levels
  • Salt-wasting adrenal crises in infancy
  • Mild virilization of genetically female infants
  • Undervirilization of genetically male infants, making it the only form of CAH which can cause ambiguous genitalia in both genetic sexes.
Polycystic ovary syndrome
  • High DHEAS and androstenedione levels
  • Low testosterone levels
  • Polycystic ovaries in sonography
  • Obesity
  • PCOS is the most common cause of hirsutism in women
  • No evidence another diagnosis
Adrenal tumors
  • Variable levels depends on tumor type
  • Low testosterone level
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Variable levels depends on tumor type
  • Testosterone is high
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome
  • Increase cortisol & metabolites
  • Variable other steroids
  • Variable mineralocorticoid excess
  • Cushingoid features
Hyperprolactinemia
  • Normal levels of most of steroids
  • Increased prolactin
  • Infertility, galactorrea

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.=