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TOPLINE: 

Patients with congenital adrenal hyperplasia (CAH) receiving glucocorticoid therapy showed reduced bone mineral density (BMD), with young adult male patients particularly affected and experiencing a significant decline after puberty.

METHODOLOGY:

• Patients with CAH require lifelong glucocorticoid therapy, which may negatively impact BMD and lead to secondary osteoporosis.
• Researchers conducted an observational study to compare the BMD of 56 prepubertal patients with CAH due to 21-hydroxylase deficiency (median age, 7.9 years; 53.6% girls) receiving chronic glucocorticoid therapy with that of 60 healthy matched control individuals.
• A subgroup of 36 young adult patients (47.2% women) who had completed pubertal development was analysed, and these patients were compared with 51 young adult healthy volunteers.
• BMD was measured using dual-energy x-ray absorptiometry in the lumbar spine and whole body; age and anthropometric measurements were recorded, and hormonal control was assessed at the time of BMD measurement.
• Patients received hydrocortisone three times daily and mineralocorticoid one or two times daily, with glucocorticoid doses expressed as dose per body surface per day.

TAKEAWAY:

• BMD values for the whole body were significantly lower in patients with CAH than in healthy control individuals for both genders (P = .0047 for boys; P = .0004 for girls); however, BMD in the lumbar spine did not differ significantly.
• BMD z-scores declined from prepuberty to adulthood in patients with CAH, particularly in the lumbar spine of young adult male patients.
• Men with CAH had significantly lower BMD in the lumbar spine than control individuals (P = .023), whereas no significant differences were found in women.
• Nearly 40% of male patients with CAH had poor hormonal control, as indicated by an androstenedione/testosterone ratio > 1. Additionally, 20% of young men with CAH presented with hypogonadism, which may have contributed to reduced BMD and osteoporosis.

IN PRACTICE:

"Reduced testosterone level and consequent hypogonadism could be one of the most important factor influencing these results," the authors wrote.

SOURCE:

This study was led by Marianna Rita Stancampiano, Department of Pediatrics, Endocrine Unit, Endo-ERN Center for Rare Endocrine Diseases, IRCCS San Raffaele Hospital, Milan, Italy, and was published online on February 25, 2025, in The Journal of Clinical Endocrinology & Metabolism. 

LIMITATIONS: 

This retrospective analysis collected BMD data after a long-term follow-up only in a subset of patients who had reached full pubertal development. Patients in this study received varying doses of glucocorticoids, and there is no consensus on the optimal parameter for correlating glucocorticoid exposure with bone mass measurements. This study did not account for other factors affecting BMD, such as diet, cholecalciferol supplementation, sports, and smoking habits.

DISCLOSURES:

This study was partially supported by the Italian Association for the Study of Rare Endocrine Diseases. The authors declared no conflicts of interest. 

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.