Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort
Authors' conclusion
In this large CYP17D cohort, we verified that the prolonged hypoestrogenism that led to delayed or absent puberty was associated with decreased bone age, lower stature in childhood and adolescence, missed growth spurts, an extended growth phase, and greater final heights with frequent eunuchoid appearance.
Study context
- Population
- Brazilian patients with combined 17-hydroxylase/17,20-lyase deficiency (CYP17D) treated at the Federal University of São Paulo Medical School and other Endocrine Reference Centres in Brazil
- Participants
- 88 patients
- Outcome
- Growth, bone maturation and body proportions
Methodological detailsmulticentre
- Multicentre
Main finding
As reported in the abstract
- Median chronological age at diagnosis, non-adult patients (range 10-20 years; n = 41)
- 15.8 years
- Median bone age at diagnosis, non-adult patients (7.5-15 years; n = 25)
- 11 years
- Delay of ≥ 2 years in bone age
- 92.5%
- Height in 30 patients (130-171.5 cm)
- 157 cm
- Height Z-score in 30 patients (−3.0 to +1.6)
- −0.4
- Final height ≥50th percentile, of 51 patients (25 XY, 14 XX)
- 77%
- Final height ≥90th percentile, of 51 patients (14 XY, 6 XX)
- 39%
- Final height ≤25th percentile, of 51 patients (1 XY, 3 XX)
- 8%
- Lower Z-scores during childhood and adolescence (plausibly missed growth spurt), of 42 patients with data
- 11 (26%)
Observational data: associations, not effects.
Original publication
Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort. Clin Endocrinol (Oxf). Published 11 May 2025. doi:10.
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