|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Fibiger-Debré von Gierke syndrome
Also known as:
De Crecchio's syndrome
Fibiger-Debré syndrome
Gallais' syndrome
Pirie’s syndrome
Wilkins' disease
Associated persons:
Luigi De Crecchio
Robert Debré
Johannes Andreas Grib Fibiger
Alfred Gallais
Edgar Otto Conrad von Gierke
George R. Pirie
Lawson Wilkins
Description:
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.
|
|
|
