Spectrum of Hypogonadism and Its Management in Adolescents With Prader‐Willi Syndrome: A Retrospective Cohort Study Over 35 Years
Authors' conclusion
Despite approximately two-thirds of adolescents with PWS entering puberty spontaneously, the majority demonstrated hypogonadism before transitioning to adult care, emphasising the need for ongoing pubertal assessment in this population. Aetiology is predominantly central hypogonadism, but there can also be a component of primary hypogonadism.
Study context
- Population
- Patients with Prader-Willi syndrome aged 6–18 years, Australian tertiary paediatric centre, 1 January 1990 to 31 May 2025
- Participants
- 65 patients
- Exposure
- Females vs Males
- Outcome
- Hypogonadism diagnosed by last visit
- Follow-up
- Last visit
Methodological detailssingle-centre, tertiary paediatric centre
- Single-centre
- Tertiary paediatric centre
Main finding
As reported in the abstract
Hypogonadism diagnosed by last visit
Central aetiology
Unknown aetiology Females 5%
Median age at diagnosis (years) Females 14.1 [13.1-15.8] · Males 15.3 [14.1-15.6]
Primary/mixed aetiology Males 27%
Observational data: associations, not effects.
Further findings
Spontaneous puberty onset (females aged ≥8 years, males aged ≥9 years)
Median age at onset (years) Females 10.3 [8.9-12.5] · Males 12.3 [11.9-14.3]
Pubertal hormone replacement therapy initiated
Pubertal hormone replacement therapy initiated
- No significant change in proportion with behavioural/psychiatric issues post treatment
Femoral neck BMD z-score
- Median age-adjusted z-score
- −1.5 [−2.2 to −0.8]
- Median height-adjusted z-score
- −0.9 [−1.6 to 0.3]
Original publication
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