The Journal of clinical endocrinology and metabolism · 2026
Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Yavas Abali Zehra, Yildiz Melek, Abali Saygin, Moniri Ariorad, Bas Firdevs, Onal Hasan, Cilsaat Gizem, Toksoy Guven, Turan Serap, Poyrazoglu Sukran, Uyguner Zehra Oya, Bundak Ruveyde, Bereket Abdullah, Darendeliler Feyza, Guran Tulay
Аннотация
CONTEXT: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) poses significant growth challenges, including accelerated bone maturation, precocious puberty, and compromised final height (FH). Data on pubertal growth in large 21-OHD cohorts remain limited.
OBJECTIVE: To assess puberty timing, duration, height gain, FH outcomes, and the effects of growth-promoting therapies (GPTs), including GnRH analog, aromatase inhibitors, and cyproterone acetate, in a large cohort with genetically confirmed classical 21-OHD.
DESIGN AND SETTING: A multicenter, retrospective, longitudinal analysis of 284 patients (46,XX: 160; 46,XY: 124).
METHODS: Data on puberty, growth, and treatments were collected from clinical records. Growth curves were plotted based on GPT use.
RESULTS: Median age at diagnosis was 0.1 years (interquartile range [IQR]: 0.03-1.1), and at last visit, 12.1 years (IQR: 7.0-17.0). Median FH was 154.0 cm (IQR: 147.3-158.2) in 46,XX (menarche at 13.0 years) and 167.0 cm (IQR: 160.0-170.0) in 46,XY. In the total cohort, 63.4% were pubertal/postpubertal, and the ratio of GPTs used alone or in combination was 41.1%. GnRH analogs, cyproterone acetate, and aromatase inhibitors were administered in 21.8% (n = 62), 8.1% (n = 23), and 5.3% (n = 15) of the cohort, respectively. The median FH-MPH difference improved from -6.7 cm to -2.3 cm in boys without and with GPT, respectively, whereas in girls it declined from -3.7 cm to -6.6 cm.
CONCLUSION: Patients with 21-OHD had diminished FH despite early diagnosis. Puberty in classical 21-OHD had an earlier onset, slower tempo, and prolonged duration, especially in girls, in which GPTs are less effective in promoting height. The management of pubertal growth needs a personalized approach in patients with classical 21-OHD.
OBJECTIVE: To assess puberty timing, duration, height gain, FH outcomes, and the effects of growth-promoting therapies (GPTs), including GnRH analog, aromatase inhibitors, and cyproterone acetate, in a large cohort with genetically confirmed classical 21-OHD.
DESIGN AND SETTING: A multicenter, retrospective, longitudinal analysis of 284 patients (46,XX: 160; 46,XY: 124).
METHODS: Data on puberty, growth, and treatments were collected from clinical records. Growth curves were plotted based on GPT use.
RESULTS: Median age at diagnosis was 0.1 years (interquartile range [IQR]: 0.03-1.1), and at last visit, 12.1 years (IQR: 7.0-17.0). Median FH was 154.0 cm (IQR: 147.3-158.2) in 46,XX (menarche at 13.0 years) and 167.0 cm (IQR: 160.0-170.0) in 46,XY. In the total cohort, 63.4% were pubertal/postpubertal, and the ratio of GPTs used alone or in combination was 41.1%. GnRH analogs, cyproterone acetate, and aromatase inhibitors were administered in 21.8% (n = 62), 8.1% (n = 23), and 5.3% (n = 15) of the cohort, respectively. The median FH-MPH difference improved from -6.7 cm to -2.3 cm in boys without and with GPT, respectively, whereas in girls it declined from -3.7 cm to -6.6 cm.
CONCLUSION: Patients with 21-OHD had diminished FH despite early diagnosis. Puberty in classical 21-OHD had an earlier onset, slower tempo, and prolonged duration, especially in girls, in which GPTs are less effective in promoting height. The management of pubertal growth needs a personalized approach in patients with classical 21-OHD.