21-hydroxylase deficiency history and symptoms: Difference between revisions

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Latest revision as of 15:36, 24 July 2020

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

Overview

Symptoms of 21-hydroxylase deficiency range from severe to mild or asymptomatic forms, depending on the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (simple virilizing), and non-classic (late-onset). In classical type, main symptoms can be severe hypotension due to adrenal crisis, ambiguous genitalia in females, and no symptoms or larger phallus in males. In non-classic types, infants and male patients may have no symptoms and females may show virilization symptoms after puberty.

History and Symptoms

Symptoms of 21-hydroxylase deficiency range from mild to severe. Some asymptomatic forms have also been identified. Variability of symptoms depends upon the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (virilization), and non-classic (late-onset):^[1]^[2]^[3]^[4]^[5]^[6]^[7]^[8]

21-OH deficiency type	Common symptoms			Less common symptoms
21-OH deficiency type	Infancy	Female	Male	Female	Male
Classic type	In salt wasting type Vomiting Weight loss Dehydration in a baby’s first few weeks of life	Ambiguous genitalia Clitoral enlargement Labial fusion Deep voice More aggressive tendencies than unaffected healthy women Early puberty Adult short stature Male-typical sexual behavior in girls and cross-gender role behavior Decreased fertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount)	Normal appearing at birth (mostly) Hyperpigmentation of the scrotum Enlarged phallus Deep voice Muscle growth Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor)	Cognitive function disturbance such as IQ impairment Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)	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	No symptoms	Hirsutism, acne and menstrual irregularity in young women Premature pubarche Advance bone age Medication resistant cystic acne Accelerated growth with tall stature as a child in pre-pubertal period Early pubarche or sexual precocity in school age children Mild subfertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount)	No symptoms Premature pubarche Advance bone age Medication resistant cystic acne Accelerated growth with tall stature as a child	Clitoromegaly Infertility Alopecia Primary amenorrhea	Acne Infertility

References

↑ Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH (2001). "Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis". J Pediatr. 138 (1): 26–32. doi:10.1067/mpd.2001.110527. PMID 11148508.
↑ Mathews GA, Fane BA, Conway GS, Brook CG, Hines M (2009). "Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure". Horm Behav. 55 (2): 285–91. doi:10.1016/j.yhbeh.2008.11.007. PMC 3296092. PMID 19100266.
↑ Mulaikal RM, Migeon CJ, Rock JA (1987). "Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". N Engl J Med. 316 (4): 178–82. doi:10.1056/NEJM198701223160402. PMID 3491959.
↑ Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ (2003). "Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Obstet Gynecol Surv. 58 (4): 275–84. doi:10.1097/01.OGX.0000062966.93819.5B. PMID 12665708.
↑ Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L; et al. (2008). "Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Hum Reprod. 23 (7): 1607–13. doi:10.1093/humrep/den118. PMID 18420648.
↑ van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.
↑ White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
↑ Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J (1996). "Psychosexual development of women with congenital adrenal hyperplasia". Horm Behav. 30 (4): 300–18. doi:10.1006/hbeh.1996.0038. PMID 9047259.

Template:WH Template:WS

[pmid11148508-1] Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH (2001). "Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis". J Pediatr. 138 (1): 26–32. doi:10.1067/mpd.2001.110527. PMID 11148508.

[pmid19100266-2] Mathews GA, Fane BA, Conway GS, Brook CG, Hines M (2009). "Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure". Horm Behav. 55 (2): 285–91. doi:10.1016/j.yhbeh.2008.11.007. PMC 3296092. PMID 19100266.

[pmid3491959-3] Mulaikal RM, Migeon CJ, Rock JA (1987). "Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". N Engl J Med. 316 (4): 178–82. doi:10.1056/NEJM198701223160402. PMID 3491959.

[pmid12665708-4] Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ (2003). "Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Obstet Gynecol Surv. 58 (4): 275–84. doi:10.1097/01.OGX.0000062966.93819.5B. PMID 12665708.

[pmid18420648-5] Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L; et al. (2008). "Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Hum Reprod. 23 (7): 1607–13. doi:10.1093/humrep/den118. PMID 18420648.

[pmid15554889-6] van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.

[pmid10857554-7] White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.

[pmid9047259-8] Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J (1996). "Psychosexual development of women with congenital adrenal hyperplasia". Horm Behav. 30 (4): 300–18. doi:10.1006/hbeh.1996.0038. PMID 9047259.

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@@ Line 1: / Line 1: @@
 __NOTOC__
-{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
+{{21-hydroxylase deficiency}}
-{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}}
+{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
 ==Overview==
+Symptoms of 21-hydroxylase deficiency range from severe to mild or asymptomatic forms, depending on the degree of [[21-Hydroxylase|21-hydroxylase]] enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (simple [[virilizing]]), and non-classic (late-onset). In classical type, main symptoms can be severe [[hypotension]] due to [[adrenal crisis]], [[ambiguous genitalia]] in females, and no symptoms or larger [[Phallus (genus)|phallus]] in males. In non-classic types, infants and male patients may have no symptoms and females may show [[virilization]] symptoms after [[puberty]].
 ==History and Symptoms==
+Symptoms of 21-hydroxylase deficiency range from mild to severe. Some asymptomatic forms have also been identified. Variability of symptoms depends upon the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (virilization), and non-classic (late-onset):<ref name="pmid11148508">{{cite journal| author=Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH| title=Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 1 | pages= 26-32 | pmid=11148508 | doi=10.1067/mpd.2001.110527 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11148508  }}</ref><ref name="pmid19100266">{{cite journal| author=Mathews GA, Fane BA, Conway GS, Brook CG, Hines M| title=Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure. | journal=Horm Behav | year= 2009 | volume= 55 | issue= 2 | pages= 285-91 | pmid=19100266 | doi=10.1016/j.yhbeh.2008.11.007 | pmc=3296092 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19100266  }}</ref><ref name="pmid3491959">{{cite journal| author=Mulaikal RM, Migeon CJ, Rock JA| title=Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=N Engl J Med | year= 1987 | volume= 316 | issue= 4 | pages= 178-82 | pmid=3491959 | doi=10.1056/NEJM198701223160402 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3491959  }}</ref><ref name="pmid12665708">{{cite journal| author=Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ| title=Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=Obstet Gynecol Surv | year= 2003 | volume= 58 | issue= 4 | pages= 275-84 | pmid=12665708 | doi=10.1097/01.OGX.0000062966.93819.5B | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12665708  }}</ref><ref name="pmid18420648">{{cite journal| author=Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L et al.| title=Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=Hum Reprod | year= 2008 | volume= 23 | issue= 7 | pages= 1607-13 | pmid=18420648 | doi=10.1093/humrep/den118 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18420648  }}</ref><ref name="pmid15554889">{{cite journal |vauthors=van der Kamp HJ, Wit JM |title=Neonatal screening for congenital adrenal hyperplasia |journal=Eur. J. Endocrinol. |volume=151 Suppl 3 |issue= |pages=U71–5 |year=2004 |pmid=15554889 |doi= |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><ref name="pmid9047259">{{cite journal |vauthors=Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J |title=Psychosexual development of women with congenital adrenal hyperplasia |journal=Horm Behav |volume=30 |issue=4 |pages=300–18 |year=1996 |pmid=9047259 |doi=10.1006/hbeh.1996.0038 |url=}}</ref>
+{| class="wikitable"
+! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |21-OH deficiency type
+! colspan="3" align="center" style="background:#4479BA; color: #FFFFFF;" + |Common symptoms
+! colspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Less common symptoms
+|-
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |Infancy
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |Female
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |Male
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |Female
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |Male
+|-
+| align="center" style="background:#DCDCDC;" + |Classic type
+|
+In salt wasting type
+* [[Vomiting]]
+* [[Weight loss]]
+* [[Dehydration]] in a baby’s first few weeks of life
+|
+* [[Ambiguous genitalia]]
-===Early-onset: Severe 21-hydroxylase deficient CAH===
+* [[Clitoromegaly|Clitoral]] enlargement
-The two most serious neonatal consequences of 21-hydroxylase deficiency occur when there is minimal measurable hydroxylase activity from prenatal life: severe virilization of female infants and life-threatening salt-wasting crises in the first month of life for XX and XY infants alike.
+* [[Labial fusion]]
+* Deep voice
-====Virilization of female infants====
+* More aggressive tendencies than unaffected healthy women
-Virilization of genetically female (XX) infants usually produces obvious [[ambiguous genitalia|genital ambiguity]]. Inside the pelvis, the [[ovary|ovaries]] are normal and since they have not been exposed to testicular [[antimullerian hormone]], the [[uterus]], [[fallopian tube]]s, upper [[vagina]], and other mullerian structures are normally formed as well. However, the high levels of testosterone in the blood can enlarge the phallus, partially or completely close the vaginal opening, enclose the [[urethra]]l groove so that it opens at the base of the phallus, on the shaft or even at the tip like a boy. Testosterone can cause the [[labia]]l skin to become as thin and rugated as a [[scrotum]], but cannot produce palpable gonads (i.e., testes) in the folds.
+* Early [[puberty]]
+* Adult [[short stature]]
-====Salt-wasting crises in infancy====
+* Male-typical [[sexual behavior]] in girls and [[cross-gender]] role behavior
-The excessive amounts of adrenal testosterone produce little effect on the genitalia of male infants with severe CAH. If a male infant with CAH is not detected by [[newborn screening]], he will appear healthy and normal and be quickly discharged home to his family.
+* Decreased [[fertility]] due to [[Hyperandrogenism|hyperandrogenemia]] and [[Anovulatory cycle|anovulatory cycles]] ([[fertility]] rate depends the enzyme amount)
+|
+* Normal appearing at birth  (mostly)
-However, the lack of aldosterone results in a high rate of [[sodium]] loss in the urine. Urinary sodium concentrations may exceed 50 mEq/L. With this rate of salt loss, the infant cannot maintain blood volume, and [[hyponatremia|hyponatremic]] [[dehydration]] begins to develop by the end of the first week of life. [[Potassium]] and [[acid]] excretion are also impaired when [[mineralocorticoid]] activity is deficient, and [[hyperkalemia]] and [[metabolic acidosis]] gradually develop. Ability to maintain circulation is further limited by the effect of cortisol deficiency. The early symptoms are spitting and poor weight gain, but most infants with severe CAH develop vomiting, severe dehydration, and circulatory collapse ([[Shock (medical)|shock]]) by the second or third week of life.
+* [[Hyperpigmentation]] of the [[scrotum]]
+* Enlarged [[Phallus (genus)|phallus]]
+* Deep voice
+* [[Muscle]] growth
+* Early [[virilization]] at two to four years of age with ([[pubic hair]], [[Growth spurts|growth spurt]], adult [[body odor]])
+|
+* [[Cognitive function]] disturbance such as IQ impairment
-===Childhood onset (simple virilizing) CAH===
+* Male-typical cognitive pattern (better [[Performance status|performance]] on spatial tasks, worse performance on verbal tasks)
-Mutations that result in some residual 21-hydroxylase activity cause milder disease, traditionally termed '''simple virilizing CAH''' (SVCAH). In these children the [[mineralocorticoid]] deficiency is insignificant and salt-wasting does not occur. The [[androgen]] excess is mild enough that [[virilization]] is not apparent or goes unrecognized at birth and in early childhood. However, androgen levels are above normal and slowly rise during childhood, producing noticeable effects between 2 and 9 years of age.
+|
+* [[Testicular masses]] due to [[testicular]] [[Adrenal tumor|adrenal rest tumors]]
+* [[Infertility]] due to [[seminiferous tubule]] obstruction, [[gonadal]] dysfunction as a result of testicular [[Adrenal tumor|adrenal rest tumors]], these [[tumors]] caused by high level of [[ACTH]]
+|-
+| align="center" style="background:#DCDCDC;" + |Non-classic type
+|
+* No symptoms
+|
+* [[Hirsutism]], [[acne]] and [[Menstrual irregularities|menstrual irregularity]] in young women
+* Premature [[pubarche]]
+* Advance [[bone age]]
+* Medication resistant [[cystic acne]]
+* Accelerated growth with tall stature as a child in pre-[[pubertal]] period
+* Early [[pubarche]] or [[sexual]] precocity in school age children
+* Mild [[subfertility]] due to [[Hyperandrogenism|hyperandrogenemia]] and [[Anovulatory cycle|anovulatory cycles]] ([[fertility]] rate depends the [[enzyme]] amount)
+|
+* No symptoms
-===Late onset (nonclassical) CAH===
+* Premature [[pubarche]]
-Other alleles result in even milder degrees of hyperandrogenism that may not even cause problems in males and may not be recognized until adolescence or later in females. Mild androgen effects in young women may include [[hirsutism]], acne, or [[anovulation]] (which in turn can cause [[infertility]]). Testosterone levels in these woman may be mildly elevated, or simply above average.
+* Advance [[bone age]]
+* Medication resistant [[cystic acne]]
+* Accelerated [[growth]] with tall stature as a child
+|
+* [[Clitoromegaly]]
+* [[Infertility]]
+* [[Alopecia]]
+* [[Primary amenorrhea]]
+|
+* [[Acne]]
+* [[Infertility]]
+|}
 ==References==
 {{Reflist|2}}
+{{WH}}
+{{WS}}
 [[Category:Disease]]
 [[Category:Pediatrics]]
@@ Line 29: / Line 88: @@
 [[Category:Genetic disorders]]
 [[Category:Intersexuality]]
+[[Category:Medicine]]
-{{WikiDoc Help Menu}}
+[[Category: Up-To-Date]]
-{{WikiDoc Sources}}

21-hydroxylase deficiency history and symptoms: Difference between revisions

Latest revision as of 15:36, 24 July 2020

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History and Symptoms

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