Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study

Congenital adrenal hyperplasia in the Nordic countries – a potential base for long-term outcome studies

“…the maximal average prevalence in Denmark was 1/7000 in females and 1/11,000 in males which were in the higher range of international prevalence studies based on data from neonatal screening programs. 2 , 3 The Danish prevalence based on clinical diagnosis was higher than that in Sweden where 1/11,200 were found to have CAH in the neonatal screening. 5 It should be noted that 92% of the cases detected in the Swedish study were classic CAH.…”

“…It is interesting to note that the median age for diagnosis in the study by Berglund et al. 2 was in females 3.1 (IQR 1.2–6.6) years and in males 4.8 (IQR 3.2–6.9) years with no apparent change after the introduction of neonatal screening 2009. However, the authors are using the phenotype to classify the severity of CAH which may be challenging.…”

“… 1 An example on such a unique study is the article in The Lancet Regional Health – Europe by Berglund et al. 2 The authors have identified all patients diagnosed with congenital adrenal hyperplasia (CAH) in Denmark since 1977 and then confirmed the diagnose by reviewing the medical records.…”

“…We note that the CYP21A2 genotype was known for 80% of the patients in the Danish study. 2 Classification using this CYP21A2 genotype could potentially facilitate comparisons and collaborations across both Denmark and Sweden since both countries have similar personal identification numbers and national diagnosis registries. This would further strengthen the power for comparisons between the different severity groups.…”

Discovery of CRN04894: A Novel Potent Selective MC2R Antagonist

“…The high ACTH levels and resulting hypercortisolemia manifest in a constellation of clinical findings, including the growth of fat pads (collarbone, back of neck, face, trunk), excessive sweating, dilation of capillaries, thinning of the skin, muscle weakness, hirsutism, depression/anxiety, hypertension, osteoporosis, insulin resistance, hyperglycemia, heart disease, and a range of other metabolic disturbances resulting in high morbidity. Congenital adrenal hyperplasia (CAH), in contrast, is a collection of genetic disorders characterized by an inability to synthesize cortisol. − The resulting loss of cortisol-driven negative feedback leads to excess ACTH secretion by the pituitary gland, adrenal hyperplasia and accumulation of other steroids and precursors, particularly androgens. Untreated CAH can be life-threatening.…”