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| __NOTOC__ | | __NOTOC__ |
| {{11β-hydroxylase deficiency }} | | {{11β-hydroxylase deficiency}} |
| {{CMG}} {{MJ}} | | {{CMG}}; {{AE}} {{MJ}} |
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| ==Overview== | | ==Overview== |
| [[Congenital adrenal hyperplasia]] due to 11β-hydroxylase deficiency must be differentiated from [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, [[androgen insensitivity syndrome]], [[polycystic ovarian syndrome]], and [[adrenal tumor]].
| | ==References== |
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| ==Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases==
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| [[Congenital adrenal hyperplasia]] due to 11β-hydroxylase deficiency must be differentiated from diseases that cause [[ambiguous genitalia]]:<ref name="pmid17875484">{{cite journal |vauthors=Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT |title=Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development |journal=Best Pract. Res. Clin. Endocrinol. Metab. |volume=21 |issue=3 |pages=351–65 |year=2007 |pmid=17875484 |doi=10.1016/j.beem.2007.06.003 |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref>
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| {| class="wikitable"
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| !Disease name
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| !Steroid status
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| !Other laboratory
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| !Important clinical findings
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| |-
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| |Classic type of 21-hydroxylase deficiency
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| |Increased:
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| * 17-OHP
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| * Progesterone
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| * Androstenedione
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| * DHEA
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| Decreased:
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| * Aldosterone
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| * Corticosterone (salt-wasting)
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| * Cortisol (simple virilizing)
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| *Low testosterone levels
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| * Ambigus genitalia in female
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| * Virilization in female
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| * Salt-wasting
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| * Hypotension and hyperkalemia
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| |-
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| |[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
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| |Increased:
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| * DOC
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| * 11-Deoxy-cortisol
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| * 17-hydroxy-progestrone, mild elevation
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| Decreased:
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| * Cortisol
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| * Corticosterone
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| * Aldosterone
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| * Low testosterone levels
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| * Hypertension and hypokalemia
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| *Virilization
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| |-
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| |[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
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| |Increased:
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| * DOC
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| * Corticosterone
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| * Progesterone
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| Decreased:
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| *Cortisol
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| * Aldosterone
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| |Low testosterone levels
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| * Hypertension
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| * Primary amenorrhea
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| * Absence of secondary sexual characteristics
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| * Minimal body hair
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| |-
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| |3β-Hydroxysteroid Dehydrogenase
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| |Increased:
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| * DHEA
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| * 17-OH pregneno-lone
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| * Pregnenolone
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| Decreased:
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| * Cortisol
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| * Aldosterone
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| * Low testosterone levels
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| * vomiting, volume depletion, hyponatremia, and hyperkalemia
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| * 46-XY infants often show undervirilization, due to a block in testosterone synthesis
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| |-
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| |Gestational hyperandrogenism
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| * Variable levels, depends on the cause of disease
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| * Maternal serum androgen concentrations (usually testosterone and androstenedione) are high
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| * 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
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| * Androgen excess sign and symptoms in mother
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| * History of androgen containing medication consumption during pregnancy in mother
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| * Virilization in a 46,XX individual with normal female internal anatomy
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| * Causes include maternal luteoma or theca-lutein cysts, and placental aromatase enzyme deficiency
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| |}
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| == References == | |
| {{Reflist|2}} | | {{Reflist|2}} |