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

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea and female external genitalia. Some of these causes include Pregnancy, androgen insensitivity syndrome, 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome.

Differentiating 17 alpha-hydroxylase deficiency from other Diseases

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea and female external genitalia. Some of these causes include Pregnancy, androgen insensitivity syndrome, 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome.[1]

Disease name Cause Differentiating
Findings Uterus Breast development Testosterone LH FSH Karyotyping
Pregnancy HCG positive
3-beta-hydroxysteroid dehydrogenase type 2 deficiency Yes in female Yes in female Low Normal Normal XY and XX
17-alpha-hydroxylase deficiency No No Low Normal Normal XY
Gonadal dysgenesis
  • Mutations in SRY, FOG2/ZFPM2, and WNT1
Yes Yes Low High High XY
Testicular regression syndrome
  • Loss of testicular function and tissue early in development
No No Low High High XY
LH receptor defects No No Low High High XY
5-alpha-reductase type 2 deficiency No No Normal male range High to normal High to normal XY
Androgen insensitivity syndrome  No Yes Normal male range Normal Normal XY
Mullerian agenesis No Yes Normal female range Normal Normal XX
Primary ovarian insufficiency Yes Yes Normal female range High High XX
Hypogonadotropic hypogonadism
  • Functional, sellar masses
Yes No Normal female range Low Normal XX
Turner syndrome
  • Chromosomal
Yes Yes Normal female range High High 45 XO

References

  1. Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C (2011). "Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients". J. Clin. Endocrinol. Metab. 96 (2): 296–307. doi:10.1210/jc.2010-1024. PMID 21147889.