Abstract
Growth of 92 Finnish patients with 21-hydroxylase deficiency (21-OHD) was analyzed retrospectively to study growth both before the diagnosis and during glucocorticoid substitution therapy. The patients were divided into two groups: those diagnosed at infancy (56 patients) and those diagnosed after the age of 1 y (36 patients). Birth lengths of those boys and girls diagnosed at infancy were greater than the national mean birth lengths (p < 0.001). Mean relative length diminished from +0.8 SD score (SDS) at birth to-1.0 SDS by the age of 1 y. Adult height was -1.0 SDS (159.9 cm) for women and-0.8 SDS (173.6 cm) for men. The difference from national mean height was significant only for women (p = 0.026). Mean relative weight during childhood correlated negatively with adult stature (r = -0.620;p = 0.006). In the group of children diagnosed later in their childhood, growth was already accelerated at infancy from +0.2 SDS at birth to+0.7 SDS by the age of 1 y (p = 0.023). The final height of girls diagnosed later in childhood was within normal limits (-0.5 SDS; 162.1 cm), whereas it was low in the corresponding group of boys (-2.1 SDS; 165.3 cm). Our data show increased mean birth length in babies with early diagnosis of 21-OHD and growth acceleration at infancy in children diagnosed later in their childhood, reflecting the growth accelerating effect of adrenal hyperandrogenism early during fetal life and infancy. To improve final height in patients with 21-OHD, lower doses of hydrocortisone should be used at infancy, and special attention should be paid to boys diagnosed later in childhood.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Abbreviations
- 21-OHD:
-
21-hydroxylase deficiency
- SDS:
-
SD score
- PSEH:
-
parent-specific expected height SD score
References
Young MC, Ribeiro J, Hughes IA 1989 Growth and body proportions in congenital adrenal hyperplasia. Arch Dis Child 64: 1554–1558.
Yu ACM, Grant DB 1995 Adult height in women with early-treated congenital adrenal hyperplasia (21-hydroxylase type): relation to body mass index in earlier childhood. Acta Paediatr 84: 899–903.
DiMartino-Nardi, Stoner E, O'Connell A, New MI 1986 The effect of treatment on final height in classical congenital adrenal hyperplasia treated with hydrocortisone. Acta Endocrinol 279: suppl 305–314.
Urban MD, Lee PA, Migeon CJ 1978 Adult height and fertility in men with congenital virilizing adrenal hyperplasia. N Engl J Med 299: 1392–1396.
Klingensmith GJ, Garcia SC, Jones HW Jr, Migeon CJ, Blizzard RM 1977 Glucocorticoid treatment of girls with congenital adrenal hyperplasia: Effects on height, sexual maturation, and fertility. J Pediatr 90: 996–1004.
Brook CGD, Zachmann M, Prader A, Murset G 1974 Experience with long-term therapy in congenital adrenal hyperplasia. J Pediatr 85: 12–19.
Appan S, Hindmarsh PC, Brook CGD 1989 Monitoring treatment in congenital adrenal hyperplasia. Arch Dis Child 64: 1235–1239.
Brook CGD 1990 The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 33: 559–567.
Aceto T, MacGillivray MH, Caprano VJ, Munschauer RV, Raiti S 1966 Congenital virilizing adrenal hyperplasia without acceleration of growth or bone maturation. JAMA 198: 91–94.
Thilen A, Woods KA, Perry LA, Savage MO, Wedell A, Ritzen EM 1995 Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency. Acta Paediatr 84: 894–898.
Miller WL Clinical review 54 1994 Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 78: 241–246.
Sorva R, Perheentupa J, Tolppanen EM 1984 A novel format for a growth chart. Acta Paediatr Scand 73: 527–529.
Sorva R, Tolppanen EM, Lankinen S, Perheentupa J 1989 Growth evaluation: parent and child specific height standards. Arch Dis Child 64: 1483–1487.
Pere A, Perheentupa J, Peter M, Voutilainen R 1995 Follow up of growth and steroids in premature adrenarche. Eur J Pediatr 154: 346–352.
Clayton GW 1986 Patterns of growth from birth to maturity in infants and children with congenital adrenal hyperplasia. Acta Endocrinol 279: suppl 295–304.
Young MC, Hughes IA 1990 Response to treatment of congenital adrenal hyperplasia in infancy. Arch Dis Child 65: 441–444.
Greylich WW, Pyle SI 1959 Radiographic Atlas of Skeletal Development of the Hand and Wrist, Ed 2. Stanford University Press, Stanford, 62–179.
Marshall WA, Tanner JM 1969 Variations in pattern of pubertal changes in girls. Arch Dis Child 44: 291–294.
Marshall WA, Tanner JM 1970 Variation in the pattern of pubertal changes in boys. Arch Dis Child 45: 13–16.
Author information
Authors and Affiliations
Additional information
Supported by the Foundation for Pediatric Research, Helsinki.
Rights and permissions
About this article
Cite this article
Jääskeläinen, J., Voutilainen, R. Growth of Patients with 21-Hydroxylase Deficiency: An Analysis of the Factors Influencing Adult Height. Pediatr Res 41, 30–33 (1997). https://doi.org/10.1203/00006450-199701000-00005
Received:
Accepted:
Issue date:
DOI: https://doi.org/10.1203/00006450-199701000-00005
This article is cited by
-
Long-term Growth in Congenital Adrenal Hyperplasia
The Indian Journal of Pediatrics (2019)
-
Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia
International Journal of Pediatric Endocrinology (2015)
-
Validation of automatic bone age determination in children with congenital adrenal hyperplasia
Pediatric Radiology (2013)
-
An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
International Journal of Pediatric Endocrinology (2010)
