21-hydroxylase deficiency history and symptoms: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{21-hydroxylase deficiency}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
==Overview==
==Overview==
Classic CAH salt-wasting CAH Baby girls with ambiguous genitalia with life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life or simple virilizing CAH but girls will have ambiguous genitalia. baby boys may have enlarged penises. nonclassic or late onset CAH Patients don't show any signs in early life but show  premature pubarche, acne, hirsutism.
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==
==History and Symptoms==
Symptom of 21-hydroxylase deficiency ranges 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):<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="pmid12835972">{{cite journal| author=Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ| title=Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. | journal=Eur Radiol | year= 2003 | volume= 13 | issue= 7 | pages= 1597-603 | pmid=12835972 | doi=10.1007/s00330-002-1786-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12835972  }}</ref><ref name="pmid15198296">{{cite journal| author=Stikkelbroeck NM, Hermus AR, Suliman HM, Jager GJ, Otten BJ| title=Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years. | journal=J Pediatr Endocrinol Metab | year= 2004 | volume= 17 | issue= 4 | pages= 645-53 | pmid=15198296 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15198296  }}</ref><ref name="pmid128359722">{{cite journal| author=Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ| title=Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. | journal=Eur Radiol | year= 2003 | volume= 13 | issue= 7 | pages= 1597-603 | pmid=12835972 | doi=10.1007/s00330-002-1786-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12835972  }}</ref><ref name="pmid18029470">{{cite journal| author=Nordenskjöld A, Holmdahl G, Frisén L, Falhammar H, Filipsson H, Thorén M et al.| title=Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. | journal=J Clin Endocrinol Metab | year= 2008 | volume= 93 | issue= 2 | pages= 380-6 | pmid=18029470 | doi=10.1210/jc.2007-0556 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18029470  }}</ref>
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"
{| class="wikitable"
! rowspan="2" |21-OH deficiency type
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |21-OH deficiency type
! colspan="3" |Common symptoms
! colspan="3" align="center" style="background:#4479BA; color: #FFFFFF;" + |Common symptoms
! colspan="3" |Less common symptoms
! colspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Less common symptoms
|-
|-
!Child
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Infancy
!Female
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Female
!Male
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Male
!Child
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Female
!Female
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Male
!Male
|-
|-
|Classical salt wasting
| align="center" style="background:#DCDCDC;" + |Classic type
|
|
* Ambiguous genitalia
In salt wasting type
 
* [[Vomiting]]
* Clitoral enlargement
* [[Weight loss]]
* Labial fusion
* [[Dehydration]] in a baby’s first few weeks of life
* Vomiting, weight loss and dehydration in a baby’s first few weeks of life.
* Early puberty
* Adult short stature
* Male-typical sexual behavior in girls and cross-gender role behavior
|
|
* Ambiguous genitalia
* [[Ambiguous genitalia]]


* Clitoral enlargement
* [[Clitoromegaly|Clitoral]] enlargement
* labial fusion
* [[Labial fusion]]
* Deep voice
* Deep voice
* Greater aggressive tendencies than unaffected healthy women
* More aggressive tendencies than unaffected healthy women
* Decreased fertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount).
* Early [[puberty]]
* Adult [[short stature]]
* Male-typical [[sexual behavior]] in girls and [[cross-gender]] role behavior
* Decreased [[fertility]] due to [[Hyperandrogenism|hyperandrogenemia]] and [[Anovulatory cycle|anovulatory cycles]] ([[fertility]] rate depends the enzyme amount)
|
|
* Normal appearing at birth(mostly)
* Normal appearing at birth (mostly)


* Hyperpigmentation of the scrotum
* [[Hyperpigmentation]] of the [[scrotum]]
* Enlarged phallus
* Enlarged [[Phallus (genus)|phallus]]
* Deep voice  
* Deep voice  
* Muscle growth
* [[Muscle]] growth
* Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).
* 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
* [[Cognitive function]] disturbance such as IQ impairment


* Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
* Male-typical cognitive pattern (better [[Performance status|performance]] on spatial tasks, worse performance on verbal tasks)
|
* Adrenal rest tumors due to sustained elevations in ACTH
|
|
* Testicular adrenal rest tumors
* [[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]]
|-
|-
|Classical non-salt wasting
| align="center" style="background:#DCDCDC;" + |Non-classic type
|
|
* No symptoms
|
|
* Decreased fertility due to hyperandrogenemia and anovulatory cycles(fertility rate depends the enzyme amount).
* [[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)
|
|
|
|
* Adrenal rest tumors due to sustained elevations in ACTH
|
* Testicular adrenal rest tumors
|-
|Late onset disease
|
* Hirsutism, acne and menstrual irregularity in young women
* Early pubarche or sexual precocity in school age children
* No symptoms
* No symptoms
* Short stature
 
|
* Premature [[pubarche]]
* Decreased fertility due to hyperandrogenemia and anovulatory cycles(fertility rate depends the enzyme amount).
* Advance [[bone age]]
|
* Medication resistant [[cystic acne]]
|
* Accelerated [[growth]] with tall stature as a child
|
|
* [[Clitoromegaly]]
* [[Infertility]]
* [[Alopecia]]
* [[Primary amenorrhea]]
|
|
* [[Acne]]
* [[Infertility]]
|} 
|} 


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
{{WH}}
{{WS}}
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]
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[[Category: Up-To-Date]]​

Latest revision as of 15:36, 24 July 2020

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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
Infancy Female Male Female Male
Classic type

In salt wasting type

  • Normal appearing at birth (mostly)
  • Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
Non-classic type
  • No symptoms
  • No symptoms

 

References

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