“Current view of Turner syndrome”

Clinical care of patients with rare  congenital syndromes encompassing endocrinology is challenging and needs to take place in a multi-disciplinary setting. Diagnosis is often severely delayed and many treatments are not founded on evidence based guidelines due to the scarcity of patients and the obvious difficulty in conducting RCTs. We focus on expert clinical care of all groups of rare endocrine diseases and continuously train young endocrinologists.
We have a clinical and research interest in many rare congenital endocrine diseases such as Turner and Klinefelter syndromes, congenital adrenal hyperplasia, disorders of sex development (DSD) with ambiguous genitalia and others. We conduct research in these and neighboring areas with the emphasis on endocrine, metabolic, epidemiological and genetic aspects. We are also engaged in other areas with our collaborators within cardiology, epidemiology, gynaecology and obstetrics, fertility and radiology. Currently, we focus on cardiac aspects of Turner syndrome coupled with molecular genetics and aim at describing new genes or genetic mechanisms involved in the cardiac phenotype. We also study the neurocognitive phenotype in Klinefelter syndrome and aim at integrating results within endocrinology and molecular medicine. We also utilize national registries focusing on mortality, morbidity, socio-economic and fetal aspects in order to better describe the natural pathway of several endocrine syndromes. Recently, we have teamed up with researchers with a background in molecular medicine and we aim at revolutionizing diagnosis of all rare endocrine diseases with a known genetic background. Internationally, we are engaged in collaborative research efforts with Turner and Klinefelter syndromes, and have participated in developing the latest international guidelines for treatment of these syndromes.

With our strong position in clinical care and research, we also aim at providing the best multi-disciplinary clinical care and research nationally and internationally.


Claus H. Gravholt, consultant, MD, DMSci, PhD, ch.gravholt@dadlnet.dk 
Kirstine Stochholm, registrar, MD, PhD, stochholm@dadlnet.dk