Abstract
The presentation, pattern of acute illness, and incidence of learning difficulties are described in 63 (33 boys, 30 girls) children with salt wasting 21-hydroxylase deficiency, drawn from a cohort study of congenital adrenal hyperplasia in the South West Region of England between 1968 and 1988. Thirty boys presented with a salt losing crisis from birth whereas the other three boys presented between 2 and 14 months of age with failure to thrive and hyponatraemia. Diagnostic uncertainty led to 13 (43%) of 30 girls developing a salt losing crisis. Five girls were misassigned as boys at birth. There were four deaths in the group, two due to salt losing crisis, one to complications of prematurity possibly compounded by 21-hydroxylase deficiency, and one from heart failure probably related to an excess of steroids. Acute admissions were common, especially during the first year of life, with convulsions in 7% of admissions. The 9% incidence of hypoglycaemia was considered to be an underestimate as blood glucose was measured in only 56 (22%) of 254 admissions. No convulsions occurred in the 38 (15%) admissions where the parents had given intramuscular hydrocortisone before bringing the child to hospital. A high incidence of learning difficulties was found among the 59 surviving children (9/30 (30%) boys and 6/29 (21%) girls), and in only two children could any factor other than 21-hydroxylase deficiency be invoked. Analysis of the subgroup with learning difficulties indicated that they were more ill at presentation with a significantly higher incidence of hypoglycaemia, and that growth in the first year was significantly worse. It is concluded that congenital adrenal hyperplasia remains a formidable disorder with an appreciable mortality and morbidity. The high incidence of learning difficulties seen in salt wasting 21-hydroxylase deficiency needs further attention. A prospective study is indicated to examine the effect of neonatal screening on morbidity from congenital adrenal hyperplasia, particularly the intellectual impairment seen in this study.
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- Brook C. G. The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 1990 Oct;33(4):559–567. doi: 10.1111/j.1365-2265.1990.tb03893.x. [DOI] [PubMed] [Google Scholar]
- DiMartino-Nardi J., Stoner E., O'Connell A., New M. I. The effect of treatment of final height in classical congenital adrenal hyperplasia (CAH). Acta Endocrinol Suppl (Copenh) 1986;279:305–314. doi: 10.1530/acta.0.112s305. [DOI] [PubMed] [Google Scholar]
- Dittmann R. W., Kappes M. E., Kappes M. H. Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia. Psychoneuroendocrinology. 1992 May-Jul;17(2-3):153–170. doi: 10.1016/0306-4530(92)90054-b. [DOI] [PubMed] [Google Scholar]
- Hurtig A. L., Rosenthal I. M. Psychological findings in early treated cases of female pseudohermaphroditism caused by virilizing congenital adrenal hyperplasia. Arch Sex Behav. 1987 Jun;16(3):209–223. doi: 10.1007/BF01541609. [DOI] [PubMed] [Google Scholar]
- Klingensmith G. J., Garcia S. C., Jones H. W., Migeon C. J., Blizzard R. M. Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility. J Pediatr. 1977 Jun;90(6):996–1004. doi: 10.1016/s0022-3476(77)80581-7. [DOI] [PubMed] [Google Scholar]
- Mulaikal R. M., Migeon C. J., Rock J. A. Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 1987 Jan 22;316(4):178–182. doi: 10.1056/NEJM198701223160402. [DOI] [PubMed] [Google Scholar]
- Nass R., Baker S. Learning disabilities in children with congenital adrenal hyperplasia. J Child Neurol. 1991 Oct;6(4):306–312. doi: 10.1177/088307389100600404. [DOI] [PubMed] [Google Scholar]
- PRADER A. Der Genitalbefund beim Pseudohermaphroditismus femininus des kongenitalen adrenogenitalen Syndroms; Morphologie, Häufigkeit, Entwicklung und Vererbung der verschiedenen Genitalformen. Helv Paediatr Acta. 1954 Jul;9(3):231–248. [PubMed] [Google Scholar]
- Thilén A., Larsson A. Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis. Acta Paediatr Scand. 1990 Feb;79(2):168–175. doi: 10.1111/j.1651-2227.1990.tb11434.x. [DOI] [PubMed] [Google Scholar]
- WILKINS L., LEWIS R. A., KLEIN R., GARDNER L. I., CRIGLER J. F., Jr, ROSEMBERG E., MIGEON C. J. Treatment of congenital adrenal hyperplasia with cortisone. J Clin Endocrinol Metab. 1951 Jan;11(1):1–25. doi: 10.1210/jcem-11-1-1. [DOI] [PubMed] [Google Scholar]