ESPE Abstracts

Introduction: Sex chromosome abnormalities (SCAs) are genetic conditions characterized by deviations in the number or structure of the sex chromosomes, present in 1 in 400 newborns. Despite their clinical significance, many patients with SCAs are diagnosed late in life or remain undiagnosed, leading to delayed or inadequate medical intervention. Karyotyping, the gold standard for diagnosis, is unsuitable for population-based newborn screening, as it is time-co...

Background: Several symmetric monogenic overgrowth syndromes with tall stature have been described, which is why children with syndromic tall stature should undergo comprehensive diagnostics. Tall stature has not been associated with chromosome 1.Objective: To present height growth and diagnostics in two male siblings with extreme tall stature and moderate mental retardation. Both had a deletion of ASH1L at chro...

Background: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by genetic or prenatal factors.Methods: For the period 1996–2020, patients with cCPHD were identified from the Danish National Patient Registry and the registries at the four Danish hospitals approved for the management of cCPHD. Retrospective hospital file reviews were performed to validate the diagn...

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...