hrp0098t11 | Top 20 Posters | ESPE2024

Postnatal detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction – potential for newborn screening

Mains Balle Camilla , Launholt Lildballe Dorte , Bedei Ivonne , Skakkebæk Anne , Chang Simon , Enrique Schäfer Ramon , Becker-Follmann Johannes , Højbjerg Gravholt Claus

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...

hrp0097p1-524 | Growth and Syndromes | ESPE2023

Two male siblings with extremely tall stature, moderate mental retardation and a deletion of ASH1L at chromosome 1q22.

Birkebæk Niels , Lildballe Dorte

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...

hrp0095rfc9.1 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark - a national observational study

Kjersgaard Jakobsen Louise , Beck Jensen Rikke , Holtum Birkebæk Niels , Hansen Dorte , Rønholt Christensen Ann-Margrethe , Thybo Christesen Henrik

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...

hrp0095p1-411 | Adrenals and HPA Axis | ESPE2022

Prevalence and Incidence of Congenital Adrenal Hyperplasia in Denmark – a nationwide cohort study

Berglund Agnethe , Juul Ornstrup Marie , Lind-Holst Marie , Bækvad-Hansen Marie , Duno Morten , Juul Anders , Borch Luise , Jørgensen Niels , M. Main Kathrina , Hansen Dorte , Højbjerg Gravholt Claus

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...