11β-hydroxylase deficiency history and symptoms: Difference between revisions

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__NOTOC__
__NOTOC__
{{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}}
{{11β-hydroxylase deficiency}}
{{CMG}}; {{AE}} {{Ammu}}
{{CMG}}; {{MJ}}
==Overview==
==Overview==
Symptoms of 11β-hydroxylase deficiency include female patients with [[ambiguous genitalia]], [[clitoromegaly]], [[labial fusion]], [[hirsutism]], [[menstrual irregularities]], aggressive behavior; male patients present with increased penile size in [[newborns]], [[acne]]. Children who are not diagnosed at birth, may present with [[premature]] [[adrenarche]], adult [[body odor]], [[axillary]] and [[pubic hair]] development, faster growth and [[bone age]] in [[premature]] [[adrenarche]].


==History==
==History==
 
* History of pseudo-[[precocious puberty]]
* [[Family history]] of 11β-hydroxylase deficiency
==Common Symptoms==
==Common Symptoms==
In classic form of 11β-hydroxylase deficiency, male and female and children clinical findings are as follows:


==Less Common Symptoms==
=== Female ===
 
* [[Ambiguous genitalia]]
==References==
* [[Clitoromegaly]]
{{Relist|2}}
* [[Labial fusion]]
* [[Hirsutism]]
* [[Menstrual irregularities]]
* Aggressive behavior


=== Male ===
* Increased penile size in [[newborns]]
* [[Acne]]


=== Children ===
Children who are not diagnosed at birth, may present with:
* [[Premature]] [[adrenarche]]
* Adult [[body odor]]
* [[Axillary]] and [[pubic hair]] development
* Faster growth and [[bone age]] in [[premature]] [[adrenarche]]
* [[Hypertension]] in children or adolescents, occurs in approximately two-thirds of patients<ref name="pmid7988480">{{cite journal |vauthors=White PC, Curnow KM, Pascoe L |title=Disorders of steroid 11 beta-hydroxylase isozymes |journal=Endocr. Rev. |volume=15 |issue=4 |pages=421–38 |year=1994 |pmid=7988480 |doi=10.1210/edrv-15-4-421 |url=}}</ref><ref name="pmid2984117">{{cite journal |vauthors=de Simone G, Tommaselli AP, Rossi R, Valentino R, Lauria R, Scopacasa F, Lombardi G |title=Partial deficiency of adrenal 11-hydroxylase. A possible cause of primary hypertension |journal=Hypertension |volume=7 |issue=2 |pages=204–10 |year=1985 |pmid=2984117 |doi= |url=}}</ref><ref name="pmid3011843">{{cite journal |vauthors=Hochberg Z, Benderly A, Kahana L, Zadik Z |title=Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=63 |issue=1 |pages=36–40 |year=1986 |pmid=3011843 |doi=10.1210/jcem-63-1-36 |url=}}</ref><ref name="pmid6607265">{{cite journal |vauthors=Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z |title=Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency) |journal=J. Clin. Endocrinol. Metab. |volume=58 |issue=2 |pages=384–7 |year=1984 |pmid=6607265 |doi=10.1210/jcem-58-2-384 |url=}}</ref>
==Less Common Symptoms==


=== Female ===
* [[Cognitive function]] disturbance such as IQ impairment
* Male-typical [[cognitive]] pattern (better [[Performance status|performance]] on [[Spatial analysis|spatial tasks]], worse [[Performance status|performance]] on verbal tasks)


=== Male ===
* [[Testicular masses]] due to [[testicular]] [[Adrenal tumor|adrenal rest tumors]]; these [[tumors]] caused by high level of ACTH
* [[Gonadal]] dysfunction as a result of testicular [[Adrenal tumor|adrenal rest tumors]]
* [[Infertility]] due to [[seminiferous tubule]] obstruction
Non-classic type is a rare and mild disease than the classic type.


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==References==
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Latest revision as of 19:39, 18 October 2017

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

Overview

Symptoms of 11β-hydroxylase deficiency include female patients with ambiguous genitalia, clitoromegaly, labial fusion, hirsutism, menstrual irregularities, aggressive behavior; male patients present with increased penile size in newborns, acne. Children who are not diagnosed at birth, may present with premature adrenarche, adult body odor, axillary and pubic hair development, faster growth and bone age in premature adrenarche.

History

Common Symptoms

In classic form of 11β-hydroxylase deficiency, male and female and children clinical findings are as follows:

Female

Male

Children

Children who are not diagnosed at birth, may present with:

Less Common Symptoms

Female

Male

Non-classic type is a rare and mild disease than the classic type.

References

  1. ↑ White PC, Curnow KM, Pascoe L (1994). "Disorders of steroid 11 beta-hydroxylase isozymes". Endocr. Rev. 15 (4): 421–38. doi:10.1210/edrv-15-4-421. PMID 7988480.
  2. ↑ de Simone G, Tommaselli AP, Rossi R, Valentino R, Lauria R, Scopacasa F, Lombardi G (1985). "Partial deficiency of adrenal 11-hydroxylase. A possible cause of primary hypertension". Hypertension. 7 (2): 204–10. PMID 2984117.
  3. ↑ Hochberg Z, Benderly A, Kahana L, Zadik Z (1986). "Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 63 (1): 36–40. doi:10.1210/jcem-63-1-36. PMID 3011843.
  4. ↑ Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z (1984). "Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency)". J. Clin. Endocrinol. Metab. 58 (2): 384–7. doi:10.1210/jcem-58-2-384. PMID 6607265.
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