17 alpha-hydroxylase deficiency differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism.[1]

Differentiating 17 alpha-hydroxylase deficiency from other Diseases

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amnorrhea. These diseases include androgen insensitivity syndrome,

Category Disease name Cause Differentiating
Congenital adrenal hyperplasia  3-beta-hydroxysteroid dehydrogenase type 2 deficiency HSD3B2 gene mutation
17-alpha-hydroxylase deficiency CYP17A1 gene mutation
Disorders with abnormal testicular activity  Gonadal dysgenesis
  • Undeveloped gonads
  • Female external genitalia
  • Intact Mullerian ducts
  • Streak gonads
  • karyotyping
Testicular regression syndrome
  • Loss of testicular function and tissue early in development
  • Female phenotype with atrophic Müllerian ducts.
Vanishing testes syndrome
  • Loss of testicular function late in fetal life
  • Normal male genitalia
  • Absent Müllerian ducts
  • Anorchia.
Disorders with abnormal androgen synthesis or response  LH receptor defects
  • LH receptor gene mutation on chromosome 2p21
  • Female external genitalia
  • Lack a uterus and fallopian tubes
  • Epididymis and vas deferens may be present
  • Laboratory evaluation:
    • Low testosterone
    • Elevated concentration of LH
    • Unresponsiveness to hCG
    • Normal levels of testosterone precursors (produced in the adrenal glands).
5-alpha-reductase type 2 deficiency
  • Autosomal recessive
  • Bilateral testes and normal testosterone formation
  • Impaired external virilization during embryogenesis
  • Defective conversion of testosterone to DHT.
  • Testosterone:DHT ratio is >10:1
Androgen insensitivity 
AMH receptor defect

References

  1. Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Wikipedia (2016. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency Accessed on February 4, 2016