17 alpha-hydroxylase deficiency historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2], Ammu Susheela, M.D. [3]

17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.

• Congenital adrenal hyperplasia was first discovered by Dr. Luigi DeCrecchio, an Italian pathologist, in 1865 following a case report of a patient with enlarged adrenal glands, male external genitalia, absence of testicles, and female internal reproductive organs.
• In 1963 congenital adrenal hyperplasia is categorized as several closely related disorders, each caused by different enzyme abnormalities.^[1]
• 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.^[2]

• In 1963 congenital adrenal hyperplasia was categorized as several closely related disorders, each caused by different enzyme abnormalities.
• In 1965, the diagnostic approach of congenital adrenal hyperplasia was established by measuring the levels of adrenal hormones in the amniotic fluid.
• in 1966, the hallmark symptoms of 17 alpha-hydroxylase deficiency (17OHD) was first described.
• In 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia.^[3][2][4]