11β-hydroxylase deficiency history and symptoms: Difference between revisions
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{{ | {{11β-hydroxylase deficiency}} | ||
{{CMG}}; {{MJ}} | {{CMG}}; {{MJ}} | ||
==Overview== | ==Overview== | ||
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==History== | ==History== | ||
* History of pseudoprecocious puberty | * History of pseudoprecocious puberty | ||
== | * Family history of congenital adrenal hyperplasia | ||
==Common symptoms== | |||
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> | |||
In classic form of 11β-hydroxylase deficiency, female are identified with: | |||
* Ambiguous genitalia | |||
* Clitoral enlargement | |||
* Labioscrotal fusion | |||
* Hirsutism | |||
* Menstrual irregularities | |||
* Aggressive behavior | |||
Male presents 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. | |||
===Less common symptoms=== | |||
11β-hydroxylase deficiency less common symptoms are: | |||
Female: | |||
* Cognitive function disturbance such as IQ impairment | |||
* Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks) | |||
Male: | |||
* Testicular masses due to testicular adrenal rest tumors | |||
* Infertility due to seminiferous tubule obstruction, gonadal dysfunction as a result of testicular adrenal rest tumors, these tumors caused by high level of ACTH | |||
Non-classic type is a rare and mild disease than the classic type. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
Revision as of 14:20, 20 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Mehrian Jafarizade, M.D [2]
Overview
Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior
History
- History of pseudoprecocious puberty
- Family history of congenital adrenal hyperplasia
Common symptoms
Hypertension in children or adolescents, occurs in approximately two-thirds of patients.[1][2][3][4]
In classic form of 11β-hydroxylase deficiency, female are identified with:
- Ambiguous genitalia
- Clitoral enlargement
- Labioscrotal fusion
- Hirsutism
- Menstrual irregularities
- Aggressive behavior
Male presents 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.
Less common symptoms
11β-hydroxylase deficiency less common symptoms are: Female:
- Cognitive function disturbance such as IQ impairment
- Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
Male:
- Testicular masses due to testicular adrenal rest tumors
- Infertility due to seminiferous tubule obstruction, gonadal dysfunction as a result of testicular adrenal rest tumors, these tumors caused by high level of ACTH
Non-classic type is a rare and mild disease than the classic type.
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.