12433 Congenital Adrenal Hyperplasia And Urogenital Surgeries
Authors: Nguyen Catherine , Yong Raymond , Xu Xu , Lin Yuezhen , Gunn Sheila Kaye , Sutton Vernon , Passoni Niccolo , Axelrad Marni , Bercaw Jennifer , Georgiadis Paraskevi , Austin Paul , Scheurer Michael , Nguyen Duc , Karaviti Lefkothea P 
Published: October 2024

Disclosure: C. Nguyen: None. R. Yong: None. X. Xu: None. Y. Lin: None. S.K. Gunn: None. V. Sutton: None. N. Passoni: None. M. Axelrad: None. J. Bercaw: None. P. Georgiadis: None. P. Austin: None. M. Scheurer: None. D. Nguyen: None. L.P. Karaviti: None.

Background: Congenital Adrenal Hyperplasia (CAH) is a condition characterized by a deficiency in the adrenal enzyme, 21-hydroxylase, due to mutations in the CYP21A2 gene. Therapeutic management of CAH attempts to replace deficient hormones and reduce excessive androgen levels. In all cases of classical CAH, surgical intervention is required to restore external genitalia and the urogenital sinus. The timing of the surgical intervention is critical and still remains a challenge to restore the balance and quality of life for these patients. Currently, there is no consensus or data-driven algorithms to help determine the optimal timing for surgery for those who present with different types of classical CAH. Objective: The purpose of the study is to determine whether patients who undergo early or late surgery have better clinical and quality of life outcomes and what factors underlie these differences. Method: A retrospective chart review was conducted of girls under 18 years of age diagnosed with CAH or CAH with salt loss who underwent feminizing genitoplasty surgery at Texas Children’s Hospital (TCH). We collected data including patient demographics, the patient’s age at the time of the initial consult and at the time of surgery, the class of CAH, the grade of virilization; the timing of surgery (early or delayed), the type of surgical treatment, the outcomes, complications, follow-up visits, as well as other factors that influenced the decision-making process regarding the timing of surgery. Results: Analysis of the charts identified 40 girls diagnosed with CAH at TCH between April 2012 and June 2022. The median age at diagnosis was 0.4 months. The three girls were diagnosed with the simple virilizing form of CAH and did not undergo surgery. Thirty-seven girls were diagnosed with the salt-wasting form of CAH, and 29 underwent surgery (78.3%). Of those 29 patients, 15 girls (51.5%) had surgery in the first 12 months of life, 9 (31%) had surgery between 13-24 months, 2 (6.9%) had surgery between 37-48 months, and 3 (10.3%) had surgery &gt; 120 months. Data for Prader staging showed equal proportions of girls who underwent surgery were classified as either Prader stage III (44.8%) or IV (44.8%). No significant differences were found in clinical parameters, complications or compliance. Conclusions: This study provided valuable insights into the management of CAH patients by examining the relationship between the timing of surgery and outcomes. The results can be used to inform data-driven guidelines that will reduce the variability in the current standard of care and improve surgical outcomes for CAH patients.

Presentation: 6/1/2024