Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency
Authors' 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.
Study context
- Population
- Patients with genetically confirmed classical 21-hydroxylase deficiency (21-OHD)
- Participants
- 284 patients
- Exposure
- Growth-promoting therapies vs no GPT
- 46,XXn = 160
- 46,XYn = 124
- Outcome
- Final height (FH)
Methodological detailsmulticenter, longitudinal
- Multicenter
- Longitudinal
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
Median FH-MPH difference, boys: without vs with GPT
- Boys without GPT vs with GPT
- −6.7 cm vs −2.3 cm
Median FH-MPH difference, girls: without vs with GPT
- Girls without GPT vs with GPT
- −3.7 cm vs −6.6 cm
Age at menarche (46,XX)
- Menarche
- 13.0 years
GPT use
- Growth-promoting therapies (GPTs) alone or in combination
- 41.1%
- GnRH analogs
- 21.8% (n = 62)
- Cyproterone acetate
- 8.1% (n = 23)
- Aromatase inhibitors
- 5.3% (n = 15)
- Pubertal/postpubertal
- 63.4%
Age
- Median age at diagnosis, years (IQR 0.03-1.1)
- 0.1
- Median age at last visit, years (IQR 7.0-17.0)
- 12.1
Original publication
Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency. J Clin Endocrinol Metab. Published 5 December 2025. doi:10. 1210/ clinem/ dgaf612
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