Table 2.
Multidisciplinary Evaluation of Pediatric and Adult Patients with PWS Before Starting rhGH Treatmenta
| Evaluation | Testing/Interventions |
| Endocrine examination to document anthropomorphic status: weight, length/height, BMI (and if possible, waist circumference and skinfold thickness), pubertal status, and presence of additional endocrine deficiencies | Bone age determination in infants and children |
| Evaluation of hypothyroidism (TSH, free T4, free T3) and commencement of replacement if appropriate | |
| Determination of IGF-I level and, if possible, GH response to provocative testing, particularly in adult individuals | |
| Evaluation of metabolic status if age ≥ 12 y and obesity: HbA1c, fasting insulin and glucose; consider oral glucose tolerance test if family history of diabetes, acanthosis nigricans or ethnic risk factors | |
| Evaluation of cardiovascular risk profile as per guidelines for obese individuals:b fasting total cholesterol, triglycerides, LDL-cholesterol and HDL-cholesterol | |
| Assess for hepatic steatosis as per guidelines for obese individuals:b AST and ALT levels, abdominal ultrasound, and biopsy where appropriate | |
| Body composition evaluation if available (dual-energy x-ray photon absorptiometry or bioelectrical impedance) | |
| Consider need for evaluation of adrenal function on an individual basis | |
| Genetic evaluation and counseling | DNA studies to confirm PWS |
| Referral to dietician | Nutritional evaluation and advice including use of food diary, control of food environment, diet composition, and caloric intake |
| Assessment of developmental and cognitive status | Age-appropriate psychomotor testing |
| Assessment of motor function if possible | Physiotherapy and occupational therapy referral |
| ENT referral if history of sleep-disordered breathing, snoring, or enlarged tonsils and adenoids are present | Tonsillectomy and adenoidectomy where indicated |
| Referral to pneumologist/sleep clinic | Sleep oximetry is mandatory before starting rhGH in all patients, preferably completed by polysomnographic evaluation |
| Scoliosis evaluation and referral to orthopedic surgeon if indicated | Spine x-ray |
| Family instruction on rhGH treatment including benefits and risks of the treatment and importance of careful monitoring | Procurement of legal guardian consent and patient assent/consent according to age and cognitive status |
Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; HDL, high-density lipoprotein; LDL, low-density lipoprotein.
a
Adapted and modified from A. P. Goldstone et al: Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008;93(11):4188 (17), with permission. © The Endocrine Society.