Diana Vanessa Suarez AyalaLos Angeles Children´s Hospital, Colombia
Title: Characterization of a cohort of pediatric patients with congenital adrenal hyperplasia
Objective: To describe the clinical and laboratory characteristics of pediatric patients with CAH and perform an exploratory analysis comparing some clinical and laboratory variables according to the types of CAH.
Patients and Method: Observational descriptive longitudinal study. Medical records from the pediatric endocrinology outpatients from four institutions in Medellín, Colombia were reviewed. Sociodemographic, clinical laboratory variables were analyzed. A descriptive statistical analysis was carried out.
Results: 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.
Conclusions: 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.
Diana Vanessa Suarez Ayala is a pediatric Endocrinology from Colombia. She created and developed the Pediatric Endocrinology services at Los Angeles Children´s Hospital Pasto- Colombia. Her experience in clinical research and as a University Professor has allowed her to have successful experiences in world-renowned institutions such as the Boston Children's Hospital, affiliated with Harvard University, and international recognition such as the PES International Scholar Award, granted by the Society of Pediatric Endocrinology of the United States.