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

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association
Nicole Reisch

Abstract

The 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.

Citations

Dec 21, 2019·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Daniel Minutti de OliveiraBruno Geloneze
Mar 26, 2021·Journal of the American College of Nutrition·Núbia Maria de OliveiraEzequiel Moreira Gonçalves
Jul 24, 2021·Molecular and Cellular Endocrinology·Thais Ramos VillelaIvani Novato Silva
Jan 4, 2022·Der Internist·Lea TschaidseNicole Reisch

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