Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form (Q103625): Difference between revisions
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Refere-se a qualquer uma das várias doenças autossômicas recessivas resultantes de mutações de genes para enzimas que medeiam as etapas bioquímicas de produção de cortisol a partir do colesterol pelas glândulas suprarrenais (esteroidogênese). Este diagnóstico é devido à deficiência da 21 -hidroxilase, forma clássica | |||
| description / en | description / en | ||
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency, classic form. | |||
Revision as of 09:22, 17 August 2026
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency, classic form.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1579690045 |
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| English | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form |
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency, classic form. |
