Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase. It causes decreased synthesis of cortisol and sex steroids, with resulting increase in mineralocorticoid production. Thus, common symptoms include mild hypocortisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at puberty in genetic females, and hypokalemic hypertension (respectively). However, partial (incomplete) deficiency is notable for having inconsistent symptoms between patients, and affected genetic (XX) females may be wholly asymptomatic except for infertility.
17-hydroxylase deficiency17 alpha-hydroxylase17 alpha-hydroxylase deficiency17 alpha hydroxylase deficiency17α-Hydroxylase/17,20-lyase deficiency17α-Hydroxylase deficiency17α-hydroxylase/17,20-lyase deficiency17α-hydroxylase deficiencyCombined 17α-hydroxylase/17,20-lyase deficiencyCongenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
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17-hydroxylase deficiency17 alpha-hydroxylase17 alpha-hydroxylase deficiency17 alpha hydroxylase deficiency17α-Hydroxylase/17,20-lyase deficiency17α-Hydroxylase deficiency17α-Hydroxypregnenolone1,2-dimethoxyethaan17α-hydroxylase/17,20-lyase deficiency17α-hydroxylase deficiencyAddison's diseaseAdrenal insufficiencyAndrogen insensitivity syndrome1,2-dimethoxyethaanCombined 17α-hydroxylase/17,20-lyase deficiencyCongenital adrenal hyperplasiaCongenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency1,2-dimethoxyethaanDisorders of sex developmentFollicle-stimulating hormone insensitivityHyperkalemiaHypoestrogenismInborn errors of steroid metabolismIsolated 17,20-lyase deficiencyLate onset congenital adrenal hyperplasiaLeydig cell hypoplasiaList of OMIM disorder codesList of diseases (0–9)List of diseases (C)Metabolic alkalosisSecondary hypertension
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Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase. It causes decreased synthesis of cortisol and sex steroids, with resulting increase in mineralocorticoid production. Thus, common symptoms include mild hypocortisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at puberty in genetic females, and hypokalemic hypertension (respectively). However, partial (incomplete) deficiency is notable for having inconsistent symptoms between patients, and affected genetic (XX) females may be wholly asymptomatic except for infertility.
has abstract
Congenital adrenal hyperplasia ...... omatic except for infertility.
@en
Der CAH durch 17-alpha-Hydroxy ...... y Anne Herron und Norma Brust.
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Врождённая гиперплазия коры на ...... щего фермент 17α-гидроксилазу.
@ru
DiseasesDB
eMedicine subject
med
@en
eMedicine topic
380
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MeSH ID
OMIM id
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Wikipage revision ID
997,827,778
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DiseasesDB
eMedicineSubj
med
@en
eMedicineTopic
MeshID
D000312
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name
Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
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OMIM
wikiPageUsesTemplate
subject
comment
Congenital adrenal hyperplasia ...... omatic except for infertility.
@en
Der CAH durch 17-alpha-Hydroxy ...... 7-alpha-hydroxylase Deficiency
@de
Врождённая гиперплазия коры на ...... щего фермент 17α-гидроксилазу.
@ru
label
CAH durch 17-alpha-Hydroxylase-Mangel
@de
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
@en
Врождённая гиперплазия коры на ...... точности 17-альфа-гидроксилазы
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sameAs
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Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
@en