Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience.
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).


METHODS
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.
Pediatric Department and Auxology Unit, Ospedale V. Buzzi, I.C.P. Milan, Italy. vlb@poboxes.com
V L
VL
Brunelli
G
G
Russo
S
S
Bertelloni
L
L
Gargantini
R
R
Balducci
L
L
Chiesa
C
C
Livieri
C
C
De Sanctis
S
S
Einaudi
R
R
Virdis
G
G
Saggese
G
G
Chiumello
D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology*; D000328:Adult; D001827:Body Height; D004305:Dose-Response Relationship, Drug; D005260:Female; D005938:Glucocorticoids / Q000008:administration & dosage; D006801:Humans; D008297:Male; D010641:Phenotype; D012727:Sex Characteristics
D005938:Glucocorticoids