Table 4.
Recommendations for screening in patients with PWS at diagnosis and throughout life.
| Item | Diagnosis | Childhood | Transition | |
|---|---|---|---|---|
| Endocrine | Growth hormone stimulation test | No | No | Noa |
| Adrenal function testing | No | Only if clinical suspicion | Only if clinical suspicion | |
| Thyroid function | Yes | Annually | Annually | |
| Cardiorespiratory | Full sleep study | Yes | 2–3 months after initiation of GH Every 2–3 years | If concerns |
| Overnight pulse oximetry | No | Annual | No | |
| Bone | Spinal X-ray | Yes | Every 2 years (once sitting) until age 5 years and at age 10 years and during puberty | Yes |
| DXA bone scan | No | No | Yes | |
| Blood monitoring | IGF-1, TFTs, FBC, nutrition screena, PTH, renal function, liver function, bone profile, vitamin D, FSHc, LHc, testosterone/oestrogenc
(IGF-BP3 and inhibin Bc – where available) |
Yes | Annual | Annual |
aThis will vary depending on local centres; bEvaluation of the GH axis can be considered in adult services; cWhen age appropriate.
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