Table 2 Sample characteristics of children with DSD and other Endocrine diagnoses
From: Parent-reported outcomes in young children with disorders/differences of sex development
DSD sample | Parental Questionnaire | |
|---|---|---|
Self-Reporta | Proxy-Reportb | |
Index cases (n) | 54 | 25 |
Parents (n)c | 55 | 25 |
Mother | 42 | 18 |
Father | 13 | 7 |
Child gender (n, %) | ||
 Male | 44 (81.5%) | 16 (64.0%) |
 Female | 10 (18.5%) | 9 (36.0%) |
Child age, years (median, range) | 1.8 (0.03, 6.8) | 4.5 (2.0, 6.5) |
DSD category and diagnosis | ||
 Sex chromosome (n, %) | 7 (13.0%) | 6 (24.0%) |
 Turner syndrome | 4 (7.4%) | 4 (16.0%) |
 Other sex chromosome DSD (e.g. Klinefelter syndrome, 45X/46Y primary gonadal dysgenesis, XO/X isodicentric Y chromosome complement) | 3 (5.5%) | 2 (8.0%) |
46, XX (n, %) | 7 (13.0%) | 6 (24.0%) |
 Disorder of androgen excess (congenital adrenal hyperplasia) | 6 (11.1%) | 5 (20.0%) |
 Other 46, XX DSD (e.g. vaginal atresia) | 1 (1.9%) | 1 (4.0%) |
46, XY (n, %) | 40 (74.0%) | 13 (52.0%) |
 Disorder of gonadal (testicular) development (e.g. bilateral anorchia) | 1 (1.9%) | 1 (4.0%) |
 Non-specific disorder of undermasculinisation (e.g. bilateral cryptorchidism, isolated hypospadias) | 28 (51.2%) | 9 (36.0%) |
 Other 46, XY DSD (e.g. combination of hypospadias and bilateral cryptorchidism or micropenis) | 11 (20.4%) | 3 (12.0%) |
Endocrine sample | ||
 Index cases (n) | 41 | 22 |
 Parents (n)d | 43 | 23 |
 Mother | 34 | 17 |
 Father | 9 | 6 |
Child gender (n, %) | ||
 Male | 23 (56.1%) | 13 (59%) |
 Female | 18 (43.9%) | 9 (40.9%) |
Child age, years (median, range) | 2.0 (0.1, 6.8) | 5.0 (2.3, 6.9) |
Endocrine category (n, %) | ||
 Disorders of short stature or growth hormone deficiency | 14 (34%) | 11 (50.0%) |
 Disorder of calcium and phosphate homeostasis | 11 (26.9%) | 4 (18.1%) |
 Disorder of thyroid gland | 7 (17.1%) | 4 (18.1%) |
 Disorder of adrenal gland | 3 (7.3%) | 2 (9.1%) |
 Disorder of pituitary gland | 2 (4.9%) | 0 |
 Genetic disorders of glucose and insulin homeostasis | 2 (4.9%) | 0 |
 Other (e.g. primary polydipsia, premature tooth exfoliation) | 2 (4.9%) | 1 (4.5%) |