Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height

Pediatric Research
J Jääskeläinen, R Voutilainen

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 ...Continue Reading

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