Publications by authors named "A Skakkebaek"
Article Synopsis
- The 46,XX testicular disorder/difference of sex development (DSD) is a rare condition where individuals typically have female chromosomes (46,XX) but display male characteristics, often due to the translocation of a Y chromosome segment to the X chromosome.
- Researchers conducted extensive genetic analysis on blood samples from individuals with 46,XX DSD and controls to explore the genetic variations and their effects on phenotype.
- The study revealed distinct categories of translocated Y chromosome segments and identified transcriptional changes linked to phenotypic traits like height and testicular size, enhancing the understanding of the genetic factors involved in 46,XX DSD.
Context: Klinefelter syndrome (KS) is associated with hypergonadotropic hypogonadism, which contributes to characteristic phenotypical manifestations including metabolic alterations. Extensive research has demonstrated important associations between androgens and liver function.
Objectives: Investigation of the association between metabolic parameters, sex hormones and liver function in males with KS, both treated (T-KS) and untreated (U-KS) and healthy control males.
Article Synopsis
- Turner syndrome (TS) is a condition that affects about 50 out of every 100,000 females and requires comprehensive care throughout life due to its impact on multiple organs.
- Recent guidelines were developed that incorporate new advances in areas such as diagnosis, estrogen treatment, fertility, and neurocognitive health, following discussions and consensus meetings held in Europe and the U.S. in 2021, culminating in a key meeting in Aarhus, Denmark in June 2023.
- A diverse group of professional societies and advocacy groups collaborated to create these guidelines, which cover crucial aspects of TS care, including growth, puberty, cardiovascular health, and ongoing health monitoring throughout the patient's lifespan.
Objective: To investigate the metabolic, cardiovascular, and neuropsychological phenotype, quality of life (QoL), and hormonal regulation in individuals with congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired synthesis of cortisol in the adrenal cortex and, if untreated compensatory hyperandrogenism. CAH is associated with an increased cardiovascular and metabolic morbidity, possibly due to overtreatment with glucocorticoids, leading to weight gain, insulin resistance, and metabolic syndrome.
Design, Participants, Measurements: Thirty-seven individuals with CAH and 33 age- and sex-matched controls were evaluated at a single centre at Aarhus University Hospital with echocardiography, electrocardiogram, 24-h blood pressure, biochemistry, anthropometrics, and autism spectrum, anxiety, depression, personality, cognitive failures, and QoL were assessed using questionnaires.