Metabolism of L-Arginine and the No Pathway in Septic Children • 168

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.

Growth Analysis in Patients with 21-Hydroxylase Deficiency Influence of Glucocorticoid Dosage, Age at Diagnosis, Phenotype and Genotype on Growth and Height Outcome

“…Thus most patients typically show final heights 1–1.5 SD below average [4]. This tendency has been observed throughout earlier and more recent studies, pointing out that modern disease management and treatment has not yet been able to efficiently address this issue [5, 6, 7, 8, 9, 10].…”

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

“…Birth length in individuals with CAH was found in two reports to be significantly increased when compared to unaffected newborns [15, 42]. In one study [15], birth length of boys and girls diagnosed with CAH in infancy was statistically greater than the national mean birth lengths in Finland.…”

“…In one study [15], birth length of boys and girls diagnosed with CAH in infancy was statistically greater than the national mean birth lengths in Finland. In another study [42], the average birth length in boys (51.2 ± 1.7 cm) and girls (50.3 ± 1.5 cm) with classic CAH was significantly greater than the mean birth length of unaffected Italian boys (50.7 ± 2.0 cm) and girls (49.4 ± 2.0 cm).…”

Management of Congenital Adrenal Hyperplasia: Results of the ESPE Questionnaire

“…Although there is now over 50 years’ experience with CAH therapy, and in spite of the fact that CAH has been one of the most important issues at the meetings of the European Society for Paediatric Endocrinology (ESPE) from the very beginning, major difficulties remain in the treatment of CAH [3, 5, 6, 7, 8, 9]. These include early and prenatal diagnosis and treatment, the design of neonatal screening programmes, substances and dosing for treatment, monitoring of treatment and outcome results including quality of life and psychosexual issues.…”