Agnethe Berglund

Summary Background The prevalence of newborns with congenital adrenal hyperplasia (CAH) detected by neonatal screening is well-described, but data including patients diagnosed later in life are extremely limited. This study aimed to describe diagnostic trends for all patients with CAH in Denmark. Methods A nationwide population-based registry study including medical record review. Findings We identified 462 patients (290 females) with any form of CAH.

ORIGINAL ARTICLE Mette Hansen Viuff Corresponding Author metteviuff@clin.au.dk orcid.org/0000-0001-6574-4893 Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark Department of Internal Medicine and Endocrinology, Aarhus University Hospital, Aarhus, Denmark Correspondence Mette Hansen Viuff, Department of Molecular Medicine and Department of Internal Medicine and Endocrinology, Aarhus University Hospital, Palle‐Juul Jensens Boulevard 99, 8200 Aarhus N, Denmark.

Abstract and Introduction Abstract Context: The long-term effects of female hormone replacement therapy (HRT) in Turner syndrome (TS) are unknown. Objective: To examine morbidity, mortality and medicinal use in TS and the impact of HRT in 45,X women. Design and Setting: National cohort study, following all TS individuals ever diagnosed in Denmark from 1977 to 2014.