title: [Final height in symptomatic boys with late-onset adrenal hyperplasia (LOCAH), treated with glucocorticoids. Clinical cases].
abstract: Although corticoid replacement is recommended for those late-onset adrenal hyperplasia with clinical manifestations, asymptomatic patients do not need treatment. We describe clinical features at diagnosis, treatment, and growth till adult- height, in 4 boys. At diagnosis, age ranged from 9.2-11.6 years. The initial symptoms/signs were: precocious pubarche (n = 2), accelerated bone age (n = 1) and precocious puberty (n = 1). All of them presented elevated 17 hydroxyprogesterone levels and were compound heterozygotes carrying p.V281L mutation. Since, at diagnosis, bone age was significantly advanced for chronological age (13.1 ± 0.5 vs. 10.2 ± 1.1 p = 0.008), hydrocortisone therapy was initiated. During follow-up, mean height Z score decreased 1.4 ± 0.4 SDS (p = 0.007), though adult mean height was not different from target height (-0.39 ± 0.7 vs. -0.04 ± 0.5 SDS, p = 0.054). In conclusion, in 4 symptomatic patients, accurate treatment of late-onset adrenal hyperplasia led to an adult mean height not different from target height. Advanced bone age at diagnosis and the loss of height during pubertal development suggest the need of therapy.
authors.affiliation: Sección Endocrinología, Crecimiento y Desarrollo, Departamento de Pediatría, Hospital Italiano. tpasqualin@intramed.net
authors.forename: Titania
authors.initials: T
authors.lastname: Pasqualini
authors.forename: Guillermo
authors.initials: G
authors.lastname: Alonso
authors.forename: Cecilia
authors.initials: C
authors.lastname: Fernández
authors.forename: Noemí
authors.initials: N
authors.lastname: Buzzalino
authors.forename: Liliana
authors.initials: L
authors.lastname: Dain
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy* / Q000503:physiopathology*; D017668:Age of Onset; D001827:Body Height; D002648:Child; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D008297:Male
chemical_list: D005938:Glucocorticoids