Clinical, molecular and bone metabolism studies in patients with congenital adrenal hyperplasia:

MARTÍN S, MUÑOZ L, PEREZ A, SOBRERO G, PICOTTO G, OCHETTI M, CARPENTIERI A, SILVANO L, DIAZ DE BARBOZA G, SIGNORINO M, RUPEREZ C, BERTOLOTTO P, ULLA M, TOLOSA DE TALAMONI N, MIRAS M

SALVADOR DE BAHIA, BRASIL

Congreso; SLEP 2010; 2010

SOCIEDAD LATINOAMERICANA DE ENDOCRINOLOGIA PEDIATRICA

We investigated final height and clinical and biochemical indicators of the outcome of glucocorticoid  therapy in patients with different clinical forms of Congenital Adrenal Hyperplasia (CAH) due to 21- hydroxylase deficiency. The frequencies of polymorphisms of different genes and their associations with parameters of bone metabolism and IGF systems were analyzed. SUBJECTS AND METHODS: In 59 patients with CAH (age 0.5 – 34 years) 17-OH Progesterone, Androstenedione, DHEA-S, testosterone, Osteocalcin,  B-crosslaps ,IGF1, and IGFBP3 were determined. Using PCR-RFLP methods, vitamin D receptor (Bsm I and Fok I), estrogen receptor (PVU II), type 1 collagen (Bal I), glucocorticoid receptor (Bcl I) gene polymorphisms and IGF1 microsatellites were determined in CAH and 114 normal controls. Final height was analyzed in 43 CAH patients. Results: SDS Final height was: male -1.46, female -0.96. The relative frequencies of the polymorphisms analyzed between groups and the healthy controls were similar. No significant associations were found between these genotypes and bone turnover markers, IGF system or bone mineral density.CONCLUSIONS: Our data show that the parameters of bone metabolism and the genotypes analyzed, with a distribution comparable to the normal population, do not yet explain the different results obtained with the treatment.