Medical research

About Genetic Endocrinology

Endocrinology deals with hormones and the many ways, in which they can affect health and disease in humans. In many endocrine conditions the underlying genetic abnormalities are not understood. We study the genetics and genomics of endocrinology. Epigenetic alterations of the genome are also likely to be involved in several endocrine conditions.

Sex Chromosome Abnormalities

Sex chromosomes are essential for our understanding of sex. Normally, if we have two X chromosomes (46,XX), we  develop into females, and if we have an X and a Y chromosome (46,XY), we become males. However, in a number of conditions things are not that straight forward. Turner syndrome (45,X), where one misses an X chromosome and has a female phenotype, is associated with infertility, hypogonadism, short stature, type 2 diabetes, autoimmune disease and other conditions. Klinefelter syndrome (47,XXY), where an extra X chromosome  and a male phenotype are present, is associated with infertility, hypogonadism, tall stature, type 2 diabetes, autoimmune disease and other conditions. Females with 46,XY disorder of sex development (DSD) and males with 46,XX DSD and other conditions with DSD are also observed.

Methylation in Turner syndrome

Differentially expressed X-chromosomal genes from the 45,X vs 46,XX comparison. Sci Rep. 2016; 6: 34220.


The prevalence of type 2 diabetes has reached worldwide proportions and much is being done to curb the steep increase. However, although genetics is known to influence the risk of developing type 2 diabetes, along with other risk factors, such as a sedentary lifestyle, diet and obesity, the exact mechanism it is not known. It has been envisioned that genetics of type 2 diabetes may be used to aid diagnosis, risk stratification, and - once the disease has occurred - treatment options. Today, all patients with type 2 diabetes are treated according to similar international guidelines. It is likely that enhanced knowledge of the genetics of type 2 diabetes will be used to personalize both risk stratification and treatment.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disease. It is the most common genetic endocrine disorder.In CAH cortisol synthesis is aberrant due to the defect of 21 hydroxylase enzyme or other enzymes. About 95 % of the mutations occur in the 21-hydroxylase gene. Currently, we have much knowledge about this condition during childhood, while considerably less is known about the development during adult life. However, data from Sweden suggest an increased morbidity due to a range of diseases likely linked to the treatment of CAH and the underlying genetic condition.

Aim of research

Our research is aimed at elucidating the genetics, genomics and epigenetics of endocrine diseases broadly and more specifically of conditions such as Turner syndrome, Klinefelter syndrome, CAH and diabetes.


Diagnosis and treatment of a patient with Turner syndrome. Copyright: Claus Gravholt

Current research activities

  • X chromosome inactivation, epigenetics and the transcriptome
  • Congenital adrenal hyperplasia – epidemiology, genetics, screening and clinical features: a nationwide study
  • The origin, genotype and phenotype of sex chromosome syndromes
  • Integrative analysis of epigenomic and transciptomic data in Turner syndrome
  • Marfan Syndrome in Denmark: genetics, epidemiology and clinical features
  • The genetic background for the neuropsychologic phenotype in Klinefelter Syndrome
  • Changes in methylation and RNA-expression linking maternal diabetes and offspring risk of metabolic disease