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Fibiger-Debré von Gierke syndrome

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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.

Bibliography

  • 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.

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