Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Much of our modern understanding and treatment of CAH comes from research conducted at Johns Hopkins Medical School in Baltimore in the middle of the 20th century. Lawson Wilkins , "founder" of pediatric endocrinology , worked out the apparently paradoxical pathophysiology: that hyperplasia and overproduction of adrenal androgens resulted from impaired capacity for making cortisol. He reported use of adrenal cortical extracts to treat children with CAH in 1950. Genital reconstructive surgery was also pioneered at Hopkins. After application of karyotyping to CAH and other intersex disorders in the 1950s, John Money , JL Hampson, and JG Hampson persuaded both the scientific community and the public that sex assignment should not be based on any single biological criterion, and gender identity was largely learned and has no simple relationship with chromosomes or hormones. See Intersex for a fuller history, including recent controversies over reconstructive surgery.

C. Y. Hsu is the mother of a child with Congenital Adrenal Hyperplasia. She holds a Bachelor of Science degree from the Massachusetts Institute of Technology in Cambridge, Massachusetts, and a Master of Architecture degree from Harvard University. Ms. Hsu is a licensed Architect who has practiced in Boston, New York, and Williamsburg, Virginia. Currently, she has her own small architecture firm in Connecticut. Scott A. Rivkees, MD, is Professor of Pediatrics at the Yale University School of Medicine in New Haven, Connecticut, and Director of the Yale Child Health Research Center, a think tank devoted to finding treatments and cures for childhood diseases and illnesses. He is also Associate Chair of Pediatrics for Research, and Chief of the Section of Developmental Endocrinology and Biology at the Yale School of Medicine.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

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