title: The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency.
abstract: Patients with 21-hydroxyase deficiency (21-OHD) usually do not present clinical symptoms other than female ambiguous genitalia and skin pigmentation at birth. However, we have found a case of neonatal transient tachypnea with spontaneous pneumomediastinum in a neonate with 21-OHD at birth. The purpose of this study was to investigate the occurrence of neonatal respiratory disorders in 21-OHD patients. From April 1989 to March 2009, 478,337 Japanese newborns were screened for congenital adrenal hyperplasia in Niigata prefecture. Among these newborns, 26 patients were diagnosed as having 21-OHD. We investigated the presence of neonatal respiratory disorders based on the retrospective medical records of 24 full-term patients with 21-OHD. Three of the 24 patients (12.5%) had neonatal acute respiratory disorders. Neonatal transient tachypnea developed in all patients with only oxygenation for two or three days after birth. Chest X-rays showed spontaneous pneumothorax or pneumomediastinum in two patients. In conclusion, 21-OHD patients may present with acute respiratory disorders, especially transient tachypnea with spontaneous pneumothorax, at birth. In cases of delivering mothers having other children with 21-OHD, newborns require attention regarding neonatal respiratory disorders if a prenatal diagnosis has not been performed.
authors.affiliation: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. nagasaki@med.niigata-u.ac.jp
authors.forename: Keisuke
authors.initials: K
authors.lastname: Nagasaki
authors.forename: Tadashi
authors.initials: T
authors.lastname: Asami
authors.forename: Yuki
authors.initials: Y
authors.lastname: Abe
authors.forename: Touhei
authors.initials: T
authors.lastname: Usuda
authors.forename: Toru
authors.initials: T
authors.lastname: Kikuchi
authors.forename: Makoto
authors.initials: M
authors.lastname: Uchiyama
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008297:Male; D012120:Respiration Disorders / Q000201:enzymology* / Q000453:epidemiology; D012189:Retrospective Studies