Abstract Multiple endocrine neoplasia type 1 is an autosomal dominantly inherited syndrome. MEN1 is characterized by the occurrence of tumors of the parathyroid glands, the pancreatic islets, the anterior pituitary…
Abstract The rare autoimmune polyglandular failure syndromes (APS) comprise a juvenile (APS1) and an adult type (APS2 and 3). APS1 is caused by mutations in the autoimmune regulatory ( AIRE…
Abstract Insulin resistance most commonly occurs in the context of obesity or other metabolic stressors, such as acute illness or inflammation; however, several known single gene defects are sufficient to…
Abstract In the last two decades, great progress has been made in refining the classification and elucidating the molecular basis of genetic lipodystrophies, rare disorders characterized by selective loss of…
Abstract Disorders of sex development (DSD) are rare disorders occurring when there is a discordance between chromosomal, gonadal, or phenotypic sex. These occur in the presence of genetic mutations that…
Abstract Androgens are critical to the normal developmental processes in vertebrates, affecting the development of the normal male phenotype during embryogenesis and regulating a range of processes in adults. In…
Abstract Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders in which genetic enzyme deficiencies impair normal steroid synthesis. The production of cortisol in the zona fasciculata…
Abstract Normal menstrual cycling results from a complex and integrated process that requires the temporal coordination of hormonal secretion and signalling within the hypothalamic-pituitary-ovarian axis. Disruption of these signals at…
Abstract In the last 30 years, an unprecedented production of new knowledge about the adrenal glands has led to subspecialization in the field: enzymatic deficiencies of steroidogenesis are mostly associated with…
