Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Synonyms: Classic 21-OHD CAH, salt wasting form
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Child And Youth Care
To ensure every rare disease patient has access to quality and affordable care, treatment services in order to reduce morbidity and mortality.
CARES Foundation (Congenital Adrenal hyperplasia Research, Education & Support Foundation )
CARES Foundation leads in the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research.
Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
Adrenal Insufficiency United
Helping find resources and navigating the health system
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.