Morten Krogh Herlin
DanMRKH: Multidisciplinary studies of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in Danish women
Morten Krogh Herlin, Dept. of Clinical Genetics at Aarhus University Hospital, has received a Lundbeck Foundation Early-Career Clinician Scientist grant worth DKK 2,500,000.
About the project
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder characterized by aplasia of the uterus and upper vagina in females with normal female chromosomes (46,XX) and sex characteristics. Patients typically present with primary amenorrhea during adolescence and upon diagnosis, the patients face overwhelming consequences related to sexual identity, fear of coital difficulties, and grieve of not having their own children.
To date, high quality population-based studies on the nature and long-term outcome of MRKHS patients are lacking to inform and support evidence-based clinical care for this patient group. To address this knowledge gap, Morten Krogh Herlin has established the Danish cohort of MRKHS patients (DanMRKH) allowing for large nationwide investigations on the basis and outcomes of MRKHS in Denmark. In a 5-year project based on this cohort, I will combine disciplines of epidemiology, gynecology, sexology, and genetics to answer priority questions on MRKHS covering overall morbidity, socioeconomics, quality of life, sexual life, and genetic etiologies of MRKHS.
The results of these nationwide studies will hopefully add a major contribution to the MRKHS field with population-based being highly requested to inform clinical diagnostics, management, care, and counselling of these patients; and that if successful, this nationwide approach will be instrumental to guide future research on other rare diseases utilizing accessible health data sources in Denmark.
