Table 4 Summary of the main interventions during the follow-up of patients with PHP and related disorders
Action points | Infancy (newborn to 2 years) | Early childhood (2–6 years) | Late childhood to adolescence | Adulthood |
---|---|---|---|---|
Anticipatory guidance | ||||
Family support | ✓ | ✓ | ✓ | NA |
Genetic counselling | At diagnosis | At diagnosis | At diagnosis | At diagnosis |
Medical evaluation | ||||
Linear growth | ✓ | ✓ | ✓ | NA |
Weight gain and BMI | ✓ | ✓ | ✓ | ✓ |
Descended testis | ✓ | ✓ | If not checked before | If not checked before |
Blood pressure | NA | ✓a | ✓ | ✓ |
Development and/or cognition | ✓ | ✓ | S | S |
Psychosocial evaluation | NA | ✓ | S | S |
Ectopic ossifications | ✓ | ✓ | ✓ | S |
Orthodontic and/or dental | NA | ✓ | ✓ | S |
Bone age radiography | NA | ✓ (in case of growth deceleration) | ✓ (in case of growth deceleration) | NA |
Calcium–phosphorus metabolism | ✓ | ✓ | ✓ | ✓ |
Age-appropriate renal imaging | ✓b | ✓b | ✓ | ✓b |
Thyroid | ✓ | ✓ | ✓ | ✓ |
Puberty | NA | NA | ✓ (biochemistry in case of retardation) | NA |
GH secretion | NA | ✓ | ✓ | S |
Glucose and lipid metabolism | NA | ✓ | ✓ | ✓ |
Fertility | NA | NA | S | S |