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Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients

Abstract

Aims: To evaluate growth from diagnosis until final height (FH) in 21-hydroxylase deficiency patients.

Methods: A retrospective longitudinal study was performed. Only patients treated with hydrocortisone and fludrocortisone (in case of salt wasting) were evaluated. This resulted in a sample of 34 (21 male, 13 female) salt wasting patients (SW) and 26 (13 male, 13 female) non-salt wasting patients (NSW). Auxological data were compared to recent Dutch reference values.

Results: In the first three months of life, the mean length SDS decreased to −1.50, probably because of the high average glucocorticoid dose (40 mg/m2/day). FH corrected for target height (FHcorrTH) was −1.25 and −1.27 SDS in females and males, respectively. Patients treated with salt supplements during the first year, had a better FHcorrTH (−0.83 SDS). In NSW patients, FHcorrTH was −0.96 and −1.51 SDS in females and males, respectively. In SW and NSW, age at onset of puberty was within normal limits, but bone age was advanced. Mean pubertal height gain was reduced in males. Body mass index was only increased in NSW females.

Conclusion: In SW, loss of final height potential might be a result of glucocorticoid excess in the first three months and sodium depletion during infancy. In NSW, loss of FH potential was caused by the delay in diagnosis. In SW and NSW, the advanced bone age at onset of puberty (undertreatment in prebertal years) resulted in loss of height gain during puberty. The effect of intensive sodium chloride support in early infancy should be examined prospectively. Neonatal screening is required if the height prognosis in NSW patients is to be improved.

  • congenital adrenal hyperplasia
  • final height
  • puberty
  • body mass index
  • 21-hydroxylase deficiency
  • longitudinal analysis of growth
  • BMI, body mass index
  • CAH, congenital adrenal hyperplasia
  • FH, final height
  • FHcorrTH, FH corrected for target height
  • FHSDS, final height standard deviation score
  • HSDS, height standard deviation score
  • LSDS, length standard deviation score
  • NSW, non-salt wasting
  • SDS, standard deviation score
  • SW, salt wasting
  • TH, target height
  • THSDS, target height standard deviation score
  • CHI, Commission for Health Improvement
  • CHT, congenital hypothyroidism
  • CNST, Clinical Negligence Scheme for Trusts
  • DDH, developmental dysplasia of the hip
  • GP, general practitioner
  • HACCP, Hazard Analysis Critical Control Point
  • NHSLA, National Health Service Litigation Authority
  • NPSA, National Patient Safety Agency
  • PCHR, Personal Child Health Record
  • PKU, phenylketonuria
  • RM, risk management
  • TB, tuberculosis
  • TBM, tuberculous meningitis

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