21-hydroxylase deficiency history and symptoms: Difference between revisions

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__NOTOC__
__NOTOC__
{{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):
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
* 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]]
* Greater aggressive tendencies than unaffected healthy women
* Deep voice
* Decreased fertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount).
* 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 [[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]]
* Failure to thrive, dehydration, hyponatremia, and hyperkalemia typically at 7 to 14 days of life.
* Deep voice
* Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).
* [[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
* [[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 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]]
* Testicular adrenal rest tumors
|-
|-
|Classical non-salt wasting
| align="center" style="background:#DCDCDC;" + |Non-classic type
|
|
* Decreased fertility due to hyperandrogenemia and anovulatory cycles(fertility rate depends the enzyme amount).
|
|
|
* No symptoms
|
|
* Adrenal rest tumors due to sustained elevations in ACTH
* [[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)
|
|
* Testicular adrenal rest tumors
|-
|Late onset disease
|
* Hirsutism and menstrual irregularity in young women
* Early pubarche or sexual precocity in school age children
* No symptoms
* No symptoms
* Premature [[pubarche]]
* Advance [[bone age]]
* Medication resistant [[cystic acne]]
* Accelerated [[growth]] with tall stature as a child
|
|
* Decreased fertility due to hyperandrogenemia and anovulatory cycles(fertility rate depends the enzyme amount).
* [[Clitoromegaly]]
|
* [[Infertility]]
|
* [[Alopecia]]
|
* [[Primary amenorrhea]]
|
|
* [[Acne]]
* [[Infertility]]
|} 
|} 
●
They are more common in patients with the salt-losing form than the simple virilizing form, as the former tend to have poorer control and higher ACTH concentrations [85]. However, a correlation between ACTH levels and tumor growth is not always seen [76,77].
●
They are typically bilateral and vary in size from 2 to 40 mm in diameter [78].
●
They may lead to obstruction of seminiferous tubules, gonadal dysfunction, and infertility (see 'Infertility' below).
●
Some, but not all, regress during glucocorticoid therapy [86,87]. A minority of patients with large adrenal rest tumors eventually requires surgery for pain relief. (See "Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults", section on 'Testicular adrenal rest tumors'.)
Because of the high prevalence of testicular adrenal rests and their association with infertility in male patients with 21-hydroxylase deficiency, we suggest screening testicular ultrasonography in adolescence or early adulthood [78].
Infertility — Most men with 21-hydroxylase deficiency are fertile as adults, but others have evidence of Leydig cell failure or impaired spermatogenesis [77,78,88]. As noted above, testicular adrenal rests may be associated with seminiferous tubule obstruction, gonadal dysfunction, and infertility. (See 'Testicular adrenal rests' above.)
In one study of 17 adolescent and adult men, serum testosterone concentrations were low in six, and seven had abnormal semen analyses [77]. In a second report of 30 men, those with adrenal rests in the testes were more likely to be infertile [76].
Epinephrine deficiency — Adrenomedullary function is compromised in patients with classic CAH, as illustrated in a study of 38 children with classic 21-hydroxylase deficiency. Plasma epinephrine and metanephrine concentrations and urinary epinephrine excretion were 40 to 80 percent lower than in normal subjects [89]. In three patients who underwent bilateral adrenalectomy, the adrenal medulla was poorly formed and the cells contained few vesicles.
In a second study, the epinephrine response to exercise was significantly reduced in patients with classic 21-hydroxylase deficiency compared with healthy volunteers [90], and stress doses of hydrocortisone did not improve the response [91]. Thus, 21-hydroxylase deficiency compromises both the development and subsequent functioning of the adrenomedullary system in severely affected cases. The combination of cortisol deficiency and epinephrine deficiency puts patients at risk for hypoglycemia with illness or prolonged fasting [90]. Adrenomedullary function has not been studied in patients with nonclassic CAH.
Other findings — Other clinical findings that have been described include adrenal incidentalomas, pituitary adenomas, insulin resistance, and hyperleptinemia.
●
Although 60 percent of patients with unilateral adrenal incidentalomas, and even more of those with bilateral incidentalomas, have exaggerated serum 17-hydroxyprogesterone responses to ACTH stimulation [1], the prevalence of germline CYP21A2 mutations is low. However, unilateral and bilateral adrenal incidentalomas were found in 10 of 12 patients with simple virilizing and five of seven patients with late-onset CAH, as well as 9 of 10 heterozygotic siblings [92]. Most tumors had a diameter of less than 2 cm, but three patients had masses more than 5 cm in size. Adrenal masses in children with CYP21A2 deficiency are usually benign [1].
●
Pituitary microadenomas or empty sella may be found, but symptomatic corticotroph tumors have not been reported [1,93].
●
Insulin resistance has been reported in patients with both classic [94] and nonclassic [95] 21-hydroxylase deficiency. Hyperandrogenism, glucocorticoid therapy, and epinephrine deficiency have all been implicated as possible risk factors for insulin resistance [14,94,95]. Hyperleptinemia has also been reported [94,96].
=== '''Congenital adrenal hyperplasia symotpms differ according to type of disease and gender of patient:''' ===
==== '''Classic CAH or early onset:''' ====
Classic cases of congenital adrenal hyperplasia come in two forms:
'''Salt-wasting CAH'''
* Baby girls with ambiguous genitalia.
* Baby boys may have enlarged penises and develop masculine features before puberty.
* Salt-wasting CAH can lead to life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life.
'''simple virilizing CAH'''
* Patients don't show hypotension, hyperkalemia and acidosis crisis 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 puberty, acne, hirsutism, and menstrual irregularity.
* Children with CAH are at risk for adult short stature due to high levels of sex hormones causing premature epiphyseal closure.<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>
* Female patients with classic CAH have more male-typical palying<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>and greater aggressive tendencies.
* Fertility rates in women are low.<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>Hyperandrogenism results in anovulatory cycles.<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>Genital malformations from congenital ambiguous genitals may contribute to low fertility.<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>Careful management with monitoring of androgen levels during gestation is indicated.<ref name="pmid10084573">{{cite journal| author=Lo JC, Schwitzgebel VM, Tyrrell JB, Fitzgerald PA, Kaplan SL, Conte FA et al.| title=Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=J Clin Endocrinol Metab | year= 1999 | volume= 84 | issue= 3 | pages= 930-6 | pmid=10084573 | doi=10.1210/jcem.84.3.5565 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10084573  }}</ref>
* Males show testicular adrenal tumors which are testicular masses of adrenal-like tissue.<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>They are more common in patients with the salt-losing form than the simple virilizing form.<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>They may lead to obstruction of seminiferous tubules and infertility. Other causes of low fertility is impaired spermatogenesis.<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>
* Fertility rates are related to the severity of the mutation.<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>
==References==
{{Reflist|2}}
Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include:
===Symptoms of adrenal hyperplasia in infants===
In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth due to loss of salt, which include:
*[[Dehydration]]
*[[Weight loss]]
*[[Vomiting]]
===Symptoms of adrenal hyperplasia in children===
*[[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)
*Early appearance of [[masculinization]] characteristics in boys (deep voice, early appearance of pubic and armpit hair, enlarged [[penis]], small [[testes]], and well-developed muscles)
===Symptoms of adrenal hyperplasia in adults===
Symptoms of adrenal hyperplasia in children and adults may include:
*[[Metrorrhagia]] and [[amenorrhea]] in girls
*[[Infertility]]


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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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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