Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form, salt wasting (Q107753): Difference between revisions
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Isso se refere 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 supra-renais (esteroidogênese). Este diagnóstico é devido à deficiência da 21 -hidroxilase, forma clássica, perdedora de sal | |||
| 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, salt wasting. | |||
Revision as of 14:47, 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, salt wasting.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1057771841 |
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| English | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form, salt wasting |
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, salt wasting. |
