TREATMENT OF ADULT PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY: A CLINICAL PRACTICE AUDIT

2003 ◽  
Vol 9 (5) ◽  
pp. 347-352 ◽  
Author(s):  
Howard Y. Li, MD ◽  
Kathryn McCrystal Dahir, MD ◽  
Lewis S. Blevins, Jr., MD
Keyword(s):  
Clinical Practice ◽  
Congenital Adrenal Hyperplasia ◽  
Adult Patients ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Practice Audit

Federal clinical practice guidelines on the management of the patients presenting with congenital adrenal hyperplasia

2014 ◽  
Vol 60 (2) ◽  
pp. 42-50 ◽  
Author(s):  
M A Kareva ◽  
I S Chugunov
Keyword(s):  
Clinical Practice ◽  
Congenital Adrenal Hyperplasia ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Neonatal Screening ◽  
Genetic Diagnosis ◽  
Hormonal Treatment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Clinical practice guidelines on Congenital Adrenal Hyperplasia (CAH) give a brief review of epidemiology, etiology and pathogenesis of all disease causative steroidogenic defects. Recommendations on neonatal screening and management of early-diagnosed CAH due 21-hydroxylase deficiency were given in details. We also included the algorithm for the hormonal treatment and management of the patients of different age. Prenatal and preimplantation genetic diagnosis of 21-hydroxylase deficiency has been also discussed.

scholarly journals Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2019 ◽  
Vol 127 (02/03) ◽  
pp. 171-177 ◽  
Author(s):  
Nicole Reisch
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Health Problems ◽  
Adult Patients ◽  
Pediatric Care ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Life Saving ◽  
21 Hydroxylase Deficiency ◽  
Almost All

AbstractThe introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies. Early diagnosis and optimised pediatric care not only successfully led to survival but also allow that almost all patients reach adulthood. Cohort studies in adults, however, provided evidence for significant health problems and co-morbidities of adult patients such as life-threatening adrenal crises, cardiovascular and metabolic health problems, fertility problems, benign endocrine tumours, and osteopenia and osteoporosis. This review summarises the current state of knowledge aiming to emphasize the neccessity of primary and secondary prevention of additional long-term health issues as a major task of health professionals in the care of CAH.

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