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}} {{AAM}}
+{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
 ==Overview==
-Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include [[dehydration]], [[vomiting]] and [[weight loss]], symptoms occur later may include [[virilization]] and [[infertility]].
+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 adrenal hyperplasia in infants===
+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>
-In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth due to loss of salt, such symptoms include:
+{| class="wikitable"
-:*[[Dehydration]]
+! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |21-OH deficiency type
-:*[[Weight loss]]
+! colspan="3" align="center" style="background:#4479BA; color: #FFFFFF;" + |Common symptoms
-:*[[Vomiting]]
+! 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]]
-===Symptoms of adrenal hyperplasia in children and adults===
+* [[Clitoromegaly|Clitoral]] enlargement
-Symptoms of adrenal hyperplasia in children and adults may include:
+* [[Labial fusion]]
-:*[[Metrorrhagia]] and [[amenorrhea]] in girls
+* Deep voice
-:*[[Ambiguous genitalia]] or [[virilizing]] genitalia in girls (often appearing more male than female: Deep voice, early appearance of pubic and armpit hair, and excessive hair growth and facial hair)
+* More aggressive tendencies than unaffected healthy women
-:*Early appearance of [[masculinization]] characteristics in boys (deep voice, early appearance of pubic and armpit hair, enlarged [[penis]], small [[testes]], and well-developed muscles)
+* Early [[puberty]]
-:*[[Infertility]]
+* 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)
+* [[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
+* Male-typical cognitive pattern (better [[Performance status|performance]] on spatial tasks, worse performance on verbal tasks)
+|
+* [[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
+* 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==
 {{Reflist|2}}
+{{WH}}
+{{WS}}
 [[Category:Disease]]
 [[Category:Pediatrics]]
@@ Line 26: / Line 88: @@
 [[Category:Genetic disorders]]
 [[Category:Intersexuality]]
-{{WikiDoc Help Menu}}
+[[Category:Medicine]]
-{{WikiDoc Sources}}
+[[Category: Up-To-Date]]

21-hydroxylase deficiency history and symptoms: Difference between revisions

Latest revision as of 15:36, 24 July 2020

Overview

History and Symptoms

References

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