Abstract
Observational descriptive longitudinal study. Medical records from the pediatric endocrinology outpatients from four institutions in Medellín, Colombia were reviewed. Sociodemographic, clinical (type of CAH, salt-wasting crisis, associated endocrinopathies), labora tory (17-hydroxyprogesterone, testosterone, dehydroepiandrosterone sulfate, androstenedione, cor tisol, and adrenocorticotropic hormone) variables were analyzed. A descriptive statistical analysis was carried out. 132 patients (65% female) were included. The median age at diagnosis was 2 months, 44.7% neonatal diagnosis. Seventy-nine children with classical salt-wasting CAH, 31 with simple virilizing, and 22 with non-classical form were documented. Median 17-OHP at diagnosis was 4820 ng/dl. Sexual differentiation disorder was presented in 47% of patients and 48% presented with adrenal crisis (AC) at diagnosis; the median age of the first AC was 15 days. Ninety-three patients required fludrocortisone and 32 patients presented AC after diagnosis and treatment. Median height/ age (last appointment): -0.49 SD, difference between bone and chronological age: 26 months. More than 60% of patients had elevated androstenedione and/or testosterone at the last appointment. Sociodemographic and clinical characteristics are similar to those reported in the literature. In 48% of patients, AC was the initial manifestation, making neonatal screening important, as it would allow an early diagnosis. We found virilization in 71% of women in our study. A CAH should be suspected in a newborn with different genitalia.
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