Fibiger-Debré von Gierke syndrome

Adrenogenital syndrome of salt loss. An inborn error of metabolism characterized by a deficiency of enzymes involved in the production of adrenocorticosteroid hormones. Three principal biochemically distinct types are recognized: (1)The virilising type, (2) mixed adrenal hyperplasia, and (3) nonvirilising adrenal hyperplasia. It is a variant of Wilkins syndrome with pseudospasm of the pylorus, causing vomiting, dehydration and death.

• L. de Crecchio:
  Sopra un caso di apparenze virili in una donna.
  Napoli, Morgagni, 1865, 7: 151.
• J. Fibiger:
  Beiträge zur Kenntniss des weiblichen Scheinzwittertums.
  Virchows Archiv für pathologische Anatomie und Physiologie, und für klinische Medizin, Berlin, 1905, 181: 1-51.
• A. Gallais:
  Le syndrome génito-surrénal; étude anatomo-clinique.
  Thesis, 1912.
• G. R. Pirie:
  A study of hyper-adrenalism, its influence in producing congenital pyloric hypertrophy and subsequent obstruction.
  Lancet, London, 1919, 2: 449-456.
• R. Debré, G. Sémélaigne:
  Hypertrophie considerable des capsules surrénales chez un nourrison mort a 10 mois sans avoir augmenté de poids depuis sa naissance.
  Bull Soc Pediat, Paris, 1925, 23: 270-271.
• E. von Gierke:
  Über Interrenalismus und interrenale Intoxikation.
  Verhandlungen der Deutschen Gesellschaft für Pathologie, Stuttgart, 1928, 23: 449-456.
• L. Wilkins, et al:
  The suppression of androgen secretion in a case of congenital adrenal hyperplasia. Preliminary report.
  Bulletin of the Johns Hopkins Hospital, Baltimore, 1950, 86: 249-252.
• A. M. Bongiovanni:
  Congenital adrenal hyperplasia and related conditions.
  In: J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, editors: The Metabolic Basis of Inherited Diseases. 4th edition, New York, MacGraw-Hill, 1978, pp. 868-893.