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

• Published in: Archives of disease in childhood Vol. 87; no. 2; pp. 139 - 144
• Main Authors: Van der Kamp, H J, Otten, B J, Buitenweg, N, De Muinck Keizer-Schrama, S M P F, Oostdijk, W, Jansen, M, Delemarre-de Waal, H A, Vulsma, T, Wit, J M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.08.2002; BMJ; BMJ Publishing Group Ltd; BMJ Publishing Group LTD
• Subjects: 21-hydroxylase deficiency; Adrenal Hyperplasia, Congenital - drug therapy; Adrenal Hyperplasia, Congenital - physiopathology; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); Adrenogenital syndrome; Androgens; Anti-Inflammatory Agents - therapeutic use; Biological and medical sciences; BMI; Body Height - drug effects; Body Mass Index; Bone Development - drug effects; CAH; Care and treatment; CHI; CHT; Clinical Negligence Scheme for Trusts; CNST; Commission for Health Improvement; Congenital adrenal hyperplasia; congenital hypothyroidism; Data Analysis; DDH; Deficiency diseases; developmental dysplasia of the hip; Endocrinopathies; Female; FH corrected for target height; FHcorrTH; FHSDS; final height; final height standard deviation score; Fludrocortisone - analogs & derivatives; Fludrocortisone - therapeutic use; general practitioner; Growth - drug effects; HACCP; Hazard Analysis Critical Control Point; Height; height standard deviation score; HSDS; Human physical development; Humans; Hydrocortisone - therapeutic use; Infant; Infant, Newborn; length standard deviation score; longitudinal analysis of growth; Longitudinal Studies; LSDS; Male; Measurement; Medical sciences; Multiple Regression Analysis; National Health Service Litigation Authority; National Patient Safety Agency; NHSLA; Non tumoral diseases. Target tissue resistance. Benign neoplasms; non-salt wasting; NPSA; NSW; Obesity; Original; PCHR; Personal Child Health Record; phenylketonuria; Physical growth; Physiological aspects; PKU; Puberty; Puberty - drug effects; Retrospective Studies; risk management; salt wasting; SDS; standard deviation score; target height; target height standard deviation score; TBM; THSDS; tuberculosis; tuberculous meningitis; Wasting syndrome; Netherlands; Endocrinopathy; Human; Adrenal cortex diseases; Enzyme; Deficiency; Hyperadrenocorticism; Enzymopathy; Growth retardation; Congenital adrenal hyperplasia syndrome; Follow up study; Body size; Adrenal gland diseases; Salt wasting; Oxidoreductases; Somatic growth; Comparative study; Steroid 21-monooxygenase
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/adc.87.2.139

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.