21-hydroxylase deficiency history and symptoms: Difference between revisions
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{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | {{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | ||
==Overview== | ==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== | ==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" | {| 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="2" |Less common symptoms | ! colspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Less common symptoms | ||
|- | |- | ||
!Infancy | ! 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 | ||
!Female | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Female | ||
!Male | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Male | ||
|- | |- | ||
|Classic type | | align="center" style="background:#DCDCDC;" + |Classic type | ||
| | | | ||
In salt wasting type | In salt wasting type | ||
* Vomiting | * [[Vomiting]] | ||
* Weight loss | * [[Weight loss]] | ||
* Dehydration in a baby’s first few weeks of life | * [[Dehydration]] in a baby’s first few weeks of life | ||
| | | | ||
* Ambiguous genitalia | * [[Ambiguous genitalia]] | ||
* Clitoral enlargement | * [[Clitoromegaly|Clitoral]] enlargement | ||
* | * [[Labial fusion]] | ||
* Deep voice | * Deep voice | ||
* | * More aggressive tendencies than unaffected healthy women | ||
* Early puberty | * Early [[puberty]] | ||
* Adult short stature | * Adult [[short stature]] | ||
* Male-typical sexual behavior in girls and cross-gender role behavior | * 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) | * 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) | ||
| | | | ||
* Testicular masses due to 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 rest tumors, these tumors caused by high level of ACTH | * [[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]] | ||
|- | |- | ||
|Non-classic type | | align="center" style="background:#DCDCDC;" + |Non-classic type | ||
| | | | ||
* No symptoms | * No symptoms | ||
| | | | ||
* Premature pubarche | * [[Hirsutism]], [[acne]] and [[Menstrual irregularities|menstrual irregularity]] in young women | ||
* Advance bone age | * Premature [[pubarche]] | ||
* Medication resistant cystic acne | * Advance [[bone age]] | ||
* Accelerated growth with tall stature as a child in | * 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) | |||
* 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 | * No symptoms | ||
* Premature pubarche | * Premature [[pubarche]] | ||
* Advance bone age | * Advance [[bone age]] | ||
* Medication resistant cystic acne | * Medication resistant [[cystic acne]] | ||
* Accelerated growth with tall stature as a child | * Accelerated [[growth]] with tall stature as a child | ||
| | | | ||
* Clitoromegaly | * [[Clitoromegaly]] | ||
* Infertility | * [[Infertility]] | ||
* Alopecia | * [[Alopecia]] | ||
* Primary amenorrhea | * [[Primary amenorrhea]] | ||
| | | | ||
* Acne | * [[Acne]] | ||
* Infertility | * [[Infertility]] | ||
|} | |} | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | |||
{{WS}} | |||
[[Category:Disease]] | |||
[[Category:Pediatrics]] | |||
[[Category:Endocrinology]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Intersexuality]] | |||
[[Category:Medicine]] | |||
[[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
|
|
|
|
|
| Non-classic type |
|
|
|
||
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.