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

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{{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}}
{{11β-hydroxylase deficiency}}
{{CMG}}; {{MJ}}
{{CMG}}; {{MJ}}
==Overview==
==Overview==
Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior
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 pseudoprecocious puberty
* History of pseudo-[[precocious puberty]]
==Symptoms==
* [[Family history]] of 11β-hydroxylase deficiency
==Common Symptoms==
In classic form of 11β-hydroxylase deficiency, male and female and children clinical findings are as follows:
 
=== Female ===
* [[Ambiguous genitalia]]
* [[Clitoromegaly]]
* [[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==


Classic: 46,XX ambiguous genitalia, postnatal virilization, hypertension
=== 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)


Nonclassic: hyperandrogenism during childhood or early adulthood; may be asymptomati
=== 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.


Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have external genitalia that do not look clearly male or female (ambiguous genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure (hypertension). Hypertension typically develops within the first year of life.
Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth (hirsutism) and irregular menstruation. Males with the non-classic form of this condition do not typically have any signs or symptoms except for short stature. Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency.
* Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include:
:* [[Acne]]
:* [[Oligomenorrhea]]
:* [[Amenoerrhea]]
:* Aggressive behavior
:* Increased growth velocity
==References==
==References==
{{Reflist|1}}
{{Reflist|2}}

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.