1. Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience.
- Author
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Brunelli VL, Russo G, Bertelloni S, Gargantini L, Balducci R, Chiesa L, Livieri C, De Sanctis C, Einaudi S, Virdis R, Saggese G, and Chiumello G
- Subjects
- Adrenal Hyperplasia, Congenital genetics, Adult, Dose-Response Relationship, Drug, Female, Glucocorticoids administration & dosage, Humans, Male, Phenotype, Sex Characteristics, Adrenal Hyperplasia, Congenital drug therapy, Adrenal Hyperplasia, Congenital pathology, Body Height
- Abstract
Objective: To investigate the influence of target height (TH), gender, phenotype, glucocorticoid formulation and age at onset of treatment on final height (FH) in patients with 21-hydroxylase deficiency (21OHD)., Patients: Clinical data of 93 patients--46 simple virilizing (SV), 35 salt-wasting (SW) and 12 late onset (LO)--were collected in six pediatric endocrinology units in Italy., Results: FH and TH were always below the mean height of the general population (mean FH, SDS: SW patients -1.3 +/- 1.2, SV patients -1.8 +/- 0.9, LO patients -1.7 +/- 1.1; mean TH, SDS: SW patients -0.6 +/- 0.8, SV patients -0.7 +/- 0.9, LO patients -1.4 +/- 1.3). FH was significantly below TH in patients with classic form (SW and SV, p <0.001), but not in LO patients. In classic form, TH seems to be related to FH, followed by age at onset of therapy and by steroid formulation, these variables explaining 30% of FH variance., Conclusions: In the classic form, substitutive therapy started before 21 months of age improved the long-term outcome. Lower TH in LO patients could be due to undiagnosed non-classic 21OHD in some of their parents. FH in LO patients seems not to benefit from corticosteroid therapy, even if late diagnosis may partly account for this result.
- Published
- 2003