Recent advances in cytologic techniques have made it possible to demonstrate a chromosomal anomaly in mongoloids—that their chromosome count is 47, instead of the normal 46, the additional 1 being a small acrocentric autosome.1,2 The primary defect in mongolism being gene-related, the role of possible endocrine abnormalities must necessarily be viewed from the practical management rather than the etiologic standpoint. In addition, such genetic advances require specific definition of gross physiologic and anatomic defects in order that correlated information may be service in evaluating this rapidly growing field from the clinical point of view.
The evidence for endocrine deficiencies in mongolism has been based mainly on histologie and anatomic evidence of path ologic alterations in the endocrine glands.3 Very little data based on recent techniques are available. Thyroid studies, utilizing radioisotopic methods of investigation, in dicated a probable intrinsic defect in this gland.4 The adrenal was thought to be
O'SULLIVAN JB, REDDY WJ, FARRELL MJ. Adrenal Function in Mongolism. Am J Dis Child. 1961;101(1):37–40. doi:10.1001/archpedi.1961.04020020039007