6809 Natural History Of Classic Congenital Adrenal Hyperplasia: Results From Pediatric And Adult Patients In The CAHtalog Registry
Authors: White P C , Sen G P , Tang F , Chen J , Lin-Su K , Matos D , Cheng H , Roberts E , Chan J L , Jeha G S 
Published: October 2024

Disclosure: P.C. White: Consulting Fee; Self; Neurocrine Biosciences, Inc.. Research Investigator; Self; Neurocrine Biosciences, Inc. G.P. Sen: Employee; Self; Neurocrine Biosciences, Inc. F. Tang: Employee; Self; Cytel. J. Chen: Employee; Self; PicnicHealth. K. Lin-Su: Advisory Board Member; Self; CARES Foundation. D. Matos: Employee; Self; CARES Foundation. H. Cheng: Employee; Self; Neurocrine Biosciences, Inc. E. Roberts: Employee; Self; Neurocrine Biosciences, Inc. J.L. Chan: Employee; Self; Neurocrine Biosciences, Inc. G.S. Jeha: Employee; Self; Neurocrine Biosciences, Inc..

Introduction: Patients with congenital adrenal hyperplasia (CAH) are exposed to excess androgens and glucocorticoids (GC), which can affect growth and lead to obesity and other metabolic complications. CAHtalog is an active US-based CAH registry developed in partnership with CARES Foundation on the PicnicHealth platform to abstract retrospective and prospective medical record data. This study reports auxological and comorbidity data for pediatric and adult patients in the CAHtalog registry. Methods: All available medical records for consented adult and pediatric patients were collected. Data were abstracted and structured into a de-identified dataset. CAHtalog data available as of October 2023 were included for analysis. Auxological data were compared to the 2000 CDC growth data. Changes in body mass index (BMI) since the first documented measurements were evaluated. Comorbidities were defined based on diagnosis codes (ICD-9/10), laboratory measurements, vital signs, and/or clinical notes. Results: Data from 32 adult (mean age: 35.8±12.7 years; 72% female) and 35 pediatric patients (mean age: 12.7±5.5 years; 51% female) were available. From the first through last medical record with relevant ages (≥18 or &lt;18 years), median follow-up durations were 13 years (adult) and 11 years (pediatric). Pediatric patients had early growth acceleration (that was more pronounced in females) with 95% confidence intervals for height-for-age of 66-99th percentile for females (2-10 years) and 42-87th percentile for males (2-13 years), followed by blunted pubertal growth. The mean peak bone age to chronological age ratio was 1.2±0.2 at age 7 years. The mean BMI-for-age consistently exceeded the 90th percentile in children aged ≥6 years, particularly for females. In adults, obesity (BMI ≥30) was highly prevalent in both females (74%) and males (33%) at all ages (61% overall), exceeding NHANES 2017-2018 general population prevalence (42%). Hypertension (53%), fatigue (47%), acne (36%), hyperlipidemia (33%), and insomnia/sleep disturbances (28%) were common comorbidities. Conclusion: Our CAH data reveal a persistent abnormal growth pattern, characterized by accelerated growth in early childhood and a deceleration in adolescents; early obesity was noted and sustained into adulthood. The anomalous growth trajectory and high rate of comorbidities reiterate the importance of early intervention and targeted disease management in this population.

Presentation: 6/2/2024