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Congenital adrenal hyperplasia (CAH) is a disorder of cortisol biosynthesis that is usually caused by a mutation in the gene that encodes steroid 21-hydroxylase. As this abnormality can lead to fatal shock, hyponatremia and hyperkalemia in early infancy, many countries include tests for CAH in their neonatal screening program. The author of this article provides an overview of the currently used methodologies for neonatal CAH screening and discusses their efficiency, limitations and cost-effectiveness.
Aromatase deficiency is an extremely rare syndrome that is characterized by congenital estrogen deprivation. Early diagnosis is a key consideration, and estrogen therapy should be initiated as soon after puberty as possible in order to avoid the skeletal complications associated with this disorder. Here, Rochira and Carani review the presentation, diagnosis and treatment of aromatase deficiency in men.
Mutations in a number of genes have been identified in patients as the primary genetic cause of idiopathic hypogonadotropic hypogonadism. These genes encode proteins that regulate gonadotropin-releasing hormone (GnRH) neuron development, migration from the nasal placode to the hypothalamus, GnRH secretion or GnRH action. This Review discusses genes associated with hypogonadotropic disorders and the molecular mechanisms by which mutations in these genes may result in idiopathic hypogonadotropic hypogonadism.
Very little is known about how the changes in body composition that occur around the time of menopause might affect subsequent risk of new-onset diabetes mellitus, as well as the management of pre-existing disease, in postmenopausal women. Here, Emily D. Szmuilowicz and colleagues discuss the potential relationship between menopause, diabetes mellitus and the use of postmenopausal hormone therapy.
Researchers have randomly assigned 811 overweight adults to low-calorie diets with differing percentages of energy derived from protein, carbohydrate, and fat; participants were followed up for 2 years. All groups experienced modest weight loss and improvements in cardiac and diabetes risk factors. Does this finding mean that clinicians can finally advise their patients on the best way to lose weight?
