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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 sampleParental Questionnaire
Self-ReportaProxy-Reportb
Index cases (n)5425
Parents (n)c5525
Mother4218
Father137
Child gender (n, %)
 Male44 (81.5%)16 (64.0%)
 Female10 (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 syndrome4 (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)4122
 Parents (n)d4323
 Mother3417
 Father96
Child gender (n, %)
 Male23 (56.1%)13 (59%)
 Female18 (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 deficiency14 (34%)11 (50.0%)
 Disorder of calcium and phosphate homeostasis11 (26.9%)4 (18.1%)
 Disorder of thyroid gland7 (17.1%)4 (18.1%)
 Disorder of adrenal gland3 (7.3%)2 (9.1%)
 Disorder of pituitary gland2 (4.9%)0
 Genetic disorders of glucose and insulin homeostasis2 (4.9%)0
 Other (e.g. primary polydipsia, premature tooth exfoliation)2 (4.9%)1 (4.5%)
  1. aParent Self-Report (PSR) questionnaire completed by parents of children from birth to 2 years. bParent Proxy-Report (PPR) questionnaire completed by parents of children aged 2 to 6 years
  2. cFor one child, both parents completed PSR
  3. dFor two children, both parents completed PSR and for one child, both parents completed PPR