Table 1

Characteristics of children with late-presenting CAH (n=58)

CharacteristicsAll childrenMaleMedian ageInterquartile range (IQR)
n(% of 58)nYears
All children585.94.7, 8.4
 21-hydroxylase deficiency5086215.64.2, 7.8
 11β-hydroxylase deficiency610<59.16.4, 13.9
 Boys (M)26455.44.2, 8.1
 Girls (F)32556.44.7, 8.4
 White4069185.54.5, 7.6
 Asian/British Asian*122167.73.1, 13.3
 Other610<57.46.3, 10.1
Clinical features at first presentation
 Secondary sexual characteristics†3866205.84.8, 7.6
 Female genital virilisation81403.21.3, 7.3
 Affected sibling‡814<510.07.4, 13.3
Genetic mutations
 No genetic testing undertaken§2746137.35.4, 9.6
 Genetic testing—results not provided1526<56.34.2, 9.0
 Genetic testing—results available162894.73.3, 5.4
  • Note: To avoid disclosure cells with n<5 have not been included; not all sections include 58 individuals.

  • Numbers in italics in the IQR column are the 25th and 75th centile.

  • *Asian/British Asian denotes Indian, Pakistani or Bangladeshi ethnic origin (UK Census 2001).

  • †These were also described by some clinicians as ‘precocious puberty’.

  • ‡Features at presentation included advanced bone age, secondary sexual characteristics, adrenal insufficiency, virilisation and hypertension; more than one feature was noted in some individuals.

  • §Children in whom genotyping was not requested were older than those genotyped (Mann–Whitney p=0.04). Clinicians were unable to provide DNA results in 16 cases.

  • CAH, congenital adrenal hyperplasia.