Reported primary diagnosis in children in Canada, the United States and globally treated with growth hormone for short stature*
| Primary diagnosis† | No. (%) of children | ||
|---|---|---|---|
| Canada n = 850 | United States n = 9806 | Globally‡n = 22 290 | |
| Growth hormone deficiency | 526 (61.9) | 5184 (52.9) | 14 036 (63.0) |
| Idiopathic | 147 (17.3) | 4088 (41.7) | 11 029 (49.5) |
| Classic | 133 (15.6) | 3198 (32.6) | 9524 (42.7) |
| Neurosecretory dysfunction | 4 (0.5) | 533 (5.4) | 919 (4.1) |
| Organic | 379 (44.6) | 1065 (10.9) | 2958 (13.3) |
| Congenital | 243 (28.6) | 665 (6.8) | 1888 (8.5) |
| Abnormal pituitary development | 184 (21.6)§ | 522 (5.3) | 1431 (6.4) |
| Clinical syndromes | 35 (4.1)¶ | 57 (0.6) | 159 (0.7) |
| Genetic defect | 6 (0.7) | 16 (0.2) | 131 (0.6) |
| Other central nervous system malformations | 10 (1.2) | 53 (0.5) | 124 (0.6) |
| Acquired | 136 (16.0) | 400 (4.1) | 1067 (4.8) |
| Intracranial tumour | 102 (12.0)** | 273 (2.8) | 786 (3.5) |
| Cranial irradiation | 13 (1.5)†† | 23 (0.2) | 62 (0.3) |
| Central nervous system injury/infection | 2 (0.2) | 16 (0.2) | 44 (0.2) |
| Histiocytosis | 2 (0.2) | 17 (0.2) | 35 (0.2) |
| Other | 14 (1.6) | 71 (0.7) | 137 (0.6) |
| Other defects of growth hormone axis (e.g., bioinactive growth hormone) | 0 (0.0) | 31 (0.3) | 103 (0.5) |
| Syndromes associated with short stature homeobox deficiency | 162 (19.1) | 804 (8.2) | 2463 (11.0) |
| Turner syndrome | 156 (18.4) | 737 (7.5) | 1868 (8.4) |
| Mixed gonadal dysgenesis | 3 (0.4) | 6 (0.1) | 20 (0.1) |
| Léri–Weill syndrome | 2 (0.2) | 21 (0.2) | 318 (1.4) |
| Short stature homeobox deficiency — other | 1 (0.1) | 40 (0.4) | 257 (1.2) |
| Other causes of short stature or reduced linear growth | 61 (7.2) | 540 (5.5) | 1023 (4.6) |
| Genetic defect | 43 (5.1) | 273 (2.8) | 481 (2.2) |
| Other | 18 (2.1)‡‡ | 267 (2.7) | 542 (2.4) |
| Idiopathic short stature | 38 (4.5)§§ | 2594 (26.4)§§ | 2842 (12.8)§§ |
| Small for gestational age | 19 (2.2) | 353 (3.6) | 1276 (5.7) |
| Skeletal dysplasia | 2 (0.2) | 19 (0.2) | 68 (0.3) |
| No growth hormone deficiency¶¶ | 19 (2.2) | 52 (0.5) | 99 (0.4) |
| Prader–Willi syndrome | 16 (1.9) | 33 (0.3) | 64 (0.3) |
| Other | 3 (0.4) | 19 (0.2) | 35 (0.2) |
↵* Investigator-provided diagnoses were assigned to a predefined hierarchical diagnostic tree to classify the primary cause of short stature and establish appropriate diagnostic groups; however, more detailed levels of diagnosis were not always provided, so number of subdiagnoses may not sum to number of main diagnostic groups in all cases.
↵† Diagnosis was unknown for 23 children in Canada, 229 in US and 380 globally.
↵‡ Includes Canada and US.
↵§ Includes patients with primary diagnoses of ectopic posterior pituitary (76), septo-optic dysplasia (67), pituitary hypoplasia (18), pituitary aplasia (10) and pituitary stalk defect (8).
↵¶ Includes patients with primary diagnoses of Prader–Willi syndrome (30; reported as a diagnosis associated with growth hormone deficiency), midline palatial defect (3) and other (2).
↵** Includes patients with primary diagnoses of medulloblastoma (43), craniopharyngioma (26), glioma (9), astrocytoma (7), germinoma (4), primitive neuroectodermal (2), ependymoma (1), pituitary adenoma (1) and unspecified (9).
↵†† Treatment for leukemia (12) and medulloblastoma (1).
↵‡‡ Includes patients with primary diagnoses of Noonan syndrome (4), chronic renal failure (2), glucocorticoid therapy (2), rheumatoid arthritis (1), inflammatory bowel disease (1) and other — unspecified (8).
↵§§ Includes children with primary diagnoses of constitutional delay of growth and familial short stature (Canada 7, US 43, globally 93).
↵¶¶ A small number of patients indicated as not having growth hormone deficiency by the investigator were enrolled with complex diagnoses that, following the structure of the diagnostic module on the case report form, would routinely be recorded under growth hormone deficiency; assignment of no growth hormone deficiency status to these patients means that, in general, their data were not included in efficacy analyses of the main study diagnostic groups but were included in safety-related analyses.