Table 1.
Chronology of diagnostic examinations performed in the two patients to exclude endocrine and syndromic diseases causing severe, early-onset obesity
| Age, year (y) month (m) | Suspected diagnoses | Methods | |
|---|---|---|---|
| Patient 1 | 0 y 9 m | Hypercortisolism | Cortisol profile and dexamethasone suppression test |
| Hypothyroidism | Thyrotropin-releasing hormone stimulation test | ||
| Growth hormone deficiency | Insulin hypoglycaemia test and radiography | ||
| Brain tumour/brain malformation | Sonography | ||
| 1 y 10 m | Prader-Willi syndrome | MS-MLPA | |
| Chromosome aberrations | Chromosome analysis | ||
| Congenital leptin deficiency | Leptin ELISA | ||
| 2 y 6 m | Brain tumour/brain malformation | MRI | |
| Pituitary tumour | MRI | ||
| Hypercortisolism | Urinary cortisol profile | ||
| Disorder of the adipocyte differentiation | In vitro functional examination | ||
| Adrenal insufficiency | Adrenocorticotropic hormone test | ||
| Adrenal gland tumour | CT | ||
| Congenital leptin deficiency | Leptin ELISA | ||
| Prohormone convertase deficiency | Oral glucose tolerance test, proinsulin ELISA | ||
| Patient 2 | 1 y 11 m | Hypercortisolism | Cortisol profile |
| Hypothyroidism | Laboratory | ||
| Chromosome aberrations | Chromosome analysis | ||
| Insulinoma | Blood glucose profile | ||
| Prader-Willi syndrome | MS-MLPA | ||
| Pseudohypoparathyroidism | Laboratory values and radiography | ||
| Brain tumour/brain malformation | CT | ||
| Glycogenosis type I | Clinical examinations | ||
| 2 y 9 m | Brain tumour/brain malformation | MRI | |
| Hypothalamus tumour | MRI | ||
| Prader-Willi syndrome | MS-MLPA | ||
| 5 y 6 m | Eating disorders | Psychological examinations | |
| 8 y 11 m | Growth hormone deficiency | l-Arginine and insulin-tolerance tests | |
| 9 y 3 m | Anterior pituitary insufficiency | Corticotropin-releasing hormone stimulation test and thyrotropin-releasing hormone stimulation test | |
| Brain tumour/brain malformation | MRI | ||
| 11 y 9 m | Pituitary tumour | MRI | |
| 12 y 2 m | Disorder of the hypothalamic-pituitary-adrenal axis | Combined pituitary stimulation test | |
| Adrenal insufficiency | Adrenocorticotropin stimulation test |
CT computer tomography, ELISA enzyme-linked immunosorbent assay, MS-MLPA methylation-specific multiplex ligation-dependent probe amplification, MRI magnetic resonance imaging