Adrenal disease

Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency

J Clin Endocrinol MetabPublished Retrospective cohort study

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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