Objective: It remains controversial if glucocorticoid replacement therapy impairs bone mineral density (BMD) in young patients with 21-hydroxylase deficiency. We aimed to analyze the impact of treatment variables, phenotype and genotype on BMD and bone metabolism in these patients.
Design: Cross-sectional study.
Measurements: Twenty-eight Caucasian patients with classical 21-hydroxylase deficiency (5-39 years). Clinical parameters, hormonal status, osteocalcin (OC), C-terminal telopeptide of type I collagen (CTX), genotype and lumbar BMD (Z-scores) were assessed. Cumulative and mean hydrocortisone equivalent doses were calculated for the entire treatment period.
Results: Patients with severely reduced BMD Z-scores (< or = -2.5 SD) had significantly higher mean/cumulative glucocorticoid doses compared to patients with moderately reduced (P = 0.003/P = 0.026) and normal Z-scores (> -1 SD) (P = 0.005/P = 0.011). Mean hydrocortisone equivalent doses > 20 mg/m(2)/day led to significantly lower lumbar BMD Z-scores (-2.16 +/- 1.4 SD) vs. doses
Conclusions: High cumulative and mean glucocorticoid doses negatively impact on BMD in children and young adults with classical 21-hydroxylase deficiency. Substitution therapy should be adapted particularly at this life period to prevent bone loss.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1365-2265.2008.03518.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Editorial: Rare forms of pediatric adrenal disorders: beyond congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Front Endocrinol (Lausanne)
December 2024
Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine & Dentistry, Queen Mary, University of London, London, United Kingdom.
Long-term Complications and Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia.
J Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency accounts for approximately 95% of all CAH cases and is one of the most common inborn errors of metabolism. While glucocorticoid therapy has significantly improved patient outcomes, the focus has shifted towards managing the long-term effects. Numerous adverse outcomes have been associated with CAH, including those resulting from supraphysiological doses of glucocorticoid and mineralocorticoid replacement, excessive adrenal androgen secretion, and elevated levels of steroid precursors and adrenocorticotropic hormone.
View Article and Find Full Text PDFAntenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns.
J Clin Res Pediatr Endocrinol
January 2025
Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH). This makes sex determination difficult, and multiple reconstructive surgeries in the postnatal period may be required. As 21-OHD is an autosomal recessive disease, the chance of any child being affected is one in four and so only one in eight will be an affected female.
View Article and Find Full Text PDFRare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.
J Clin Res Pediatr Endocrinol
January 2025
University of Health Sciences Turkey, Dr. Sami Ulus Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed.
View Article and Find Full Text PDFTreatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence.
J Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (). 21-hydroxylase deficiency has been divided into classical and non-classical forms.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!