Belgian Genetic Tests database
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
| Name: |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
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| Description: |
A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.
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| ORPHAcode: |
315306
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| Synonyms: |
Classic 21-OHD CAH, salt wasting form
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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