ESPE Abstracts

Background: Congenital Adrenal Hyperplasia (CAH) is a rare autosomal recessive genetic disorder caused by the absence or severely impaired activity of enzymes involved in adrenal steroid biosynthesis, with over 90% of cases resulting from 21-hydroxylase deficiency. The initial presentation of CAH can range from a dramatic adrenal crisis with salt loss to more subtle signs such as female genital ambiguity or male scrotal hyperpigmentation. Timely identification of this condition is crucial for promptly initiating replacement therapy in severe cases and ensuring close monitoring in milder cases. To address the potential life-threatening consequences of the disorder and facilitate appropriate sex assignments for affected females, neonatal screening programs for CAH have been implemented in numerous countries. In Italy, the regional partition of healthcare policies has led to significant heterogeneity in screening programs and currently only 5 out of the 20 Italian regions perform routine screening for CAH.

Methods and Study design: This will be the first observational, multicenter study potentially involving all Italian regions aim ing to compare regions where neonatal CAH screening is routinely conducted with those where it is not. This approach will hopefully assess the impact of neonatal screening for CAH by investigating whether Italian regions where screening is routine have higher rates of early diagnosis, lesser risk of life-threatening events and more successful treatment strategies than regions where screening is absent. All participating centres will be required to provide data on screening methods, clinical findings and follow-up of patients who received a diagnosis of CAH between 2005 and 2023. Our study also aims to conduct a comprehensive investigation into various aspects of CAH, outlining the Italian landscape regarding its diagnosis, management, and follow-up. We investigate variations in its incidence and clinical presentation, stratified by gender. Additionally, we aimto analyze disparities in the age of therapy start, evaluate differences in treatment approaches and identify the genetic mutations associated with the disease. Furthermore, we intend to assess the frequency of life-threatening events among affected individuals. Another focal point of our research entails observing the genital appearance at the onset of puberty, documenting the median age of puberty, and delineating growth trends in affected patients.

Conclusions: Despite current evidence of its utility, CAH screening is neither standardized nor systematically performed in all Italian regions. We hope that this study will demonstrate the efficiency and cost-effectiveness of CAH screening and encourage nationwide implementation of neonatal screening for this disorder.