TOPLINE:

Patients with 21-hydroxylase deficiency (21-OHD) had lower final height despite early diagnosis. They also experienced earlier onset and a prolonged duration of puberty. Growth-promoting therapies showed variable effectiveness, increasing the final height relative to midparental height in boys but not in girls.

METHODOLOGY:

• Congenital adrenal hyperplasia due to 21-OHD causes accelerated bone maturation, precocious puberty, and reduced final height, yet data on pubertal growth patterns in large cohorts of patients with 21-OHD remain limited.
• Researchers conducted a retrospective longitudinal study to evaluate pubertal timing and duration, height gain, final height, and effects of growth-promoting therapies.
• The study included 284 patients with genetically confirmed classical 21-OHD (46,XX: n = 160; 46,XY: n = 124); 876 follow-up visits conducted at intervals of 3-6 months across three centers in Türkiye were analyzed.
• Data on molecular etiologies, pubertal timing, anthropometric measurements, midparental height, bone age, final height, and glucocorticoid dosing were collected from medical records.

TAKEAWAY:

• Overall, 63.4% of patients were pubertal or postpubertal, with 41.1% receiving growth-promoting therapy.
• Despite interventions, the final adult height often remained below population norms; in this cohort, the median final height SD score was -1.5.
• Pubic and axillary hair appeared earlier in patients with 21-OHD, at median ages of 8.4 and 10.9 years, respectively, in girls and 8.3 and 10.6 years, respectively, in boys; the duration of puberty was also notably prolonged in these patients.
• The difference between final height and midparental height improved in boys from -6.7 cm without growth-promoting therapy to -2.3 cm with therapy but worsened in girls from -3.7 cm without therapy to -6.6 cm with therapy.

IN PRACTICE:

“This study underscores the challenges of optimizing pubertal growth and final height in children with classical 21-OHD…. These findings support tailored treatment strategies that balance hormonal control with growth promotion, particularly during puberty,” the authors wrote.

SOURCE:

The study was led by Zehra Yavas Abali, Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Türkiye. It was published online in The Journal of Clinical Endocrinology & Metabolism.

LIMITATIONS:

The retrospective design and data heterogeneity from three centers limited the study’s findings. Most patients were diagnosed before routine screening at birth was implemented, potentially affecting the applicability to current clinical practice. Only a small number of patients received each type of growth-promoting therapy, so it was not possible to compare the efficacy of these individual drugs.

DISCLOSURES:

The study received no specific grant. The authors reported having no relevant 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.