17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S [2]

Overview

17 beta hydroxysteroid dehydrogenase deficiency should be differentiated from other diseases that cause ambiguous genitalia

Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases

17 beta hydroxysteroid dehydrogenase deficiency should be differentiated from other diseases that cause ambiguous genitalia.^[1]^[2]

Disease name	Steroid status		Important clinical findings
Disease name	Increased	Decreased	Important clinical findings
Classic type of 21-hydroxylase deficiency	17-hydroxyprogesterone Progesterone Androstenedione DHEA	Aldosterone Corticosterone (salt-wasting) Cortisol	Ambiguous genitalia in female Virilization in female Salt-wasting Hypotension and hyperkalemia
11-β hydroxylase deficiency	Deoxycorticosterone 11-Deoxy-cortisol 17-hydroxyprogesterone (mild elevation)	Cortisol Corticosterone Aldosterone	Ambiguous genitalia in female Hypertension and hypokalemia Virilization
17-α hydroxylase deficiency	Deoxycorticosterone Corticosterone Progesterone	Cortisol Aldosterone	Ambiguous genitalia in male Hypertension Primary amenorrhea Absence of secondary sexual characteristics Minimal body hair
3 beta-hydroxysteroid dehydrogenase deficiency	Dehydroepiandrosterone 17-hydroxypregnenolone 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 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

References

↑ Folsom LJ, Hjaige M, Liu J, Eugster EA, Auchus RJ (2019). “Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency”. Mol Cell Endocrinol. 489: 3–8. doi:10.1016/j.mce.2018.11.014. PMC 6511466 Check |pmc= value (help). PMID 30508571.
↑ White PC (1994). “Genetic diseases of steroid metabolism”. Vitam Horm. 49: 131–95. doi:10.1016/s0083-6729(08)61147-4. PMID 7810070.

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[pmid30508571-1] Folsom LJ, Hjaige M, Liu J, Eugster EA, Auchus RJ (2019). “Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency”. Mol Cell Endocrinol. 489: 3–8. doi:10.1016/j.mce.2018.11.014. PMC 6511466 Check |pmc= value (help). PMID 30508571.

[pmid7810070-2] White PC (1994). “Genetic diseases of steroid metabolism”. Vitam Horm. 49: 131–95. doi:10.1016/s0083-6729(08)61147-4. PMID 7810070.

[1]

[2]

17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis

Overview

Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases

References

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