The Journal of Pediatrics
Volume 57, Issue 3 , Pages 443-451 , September 1960

A congenital, familial syndrome of adrenocortical insufficiency without hypoaldosteronism

    M.D.
  • Robert S. Stempfel Jr.

      Affiliations

    • Department of Pediatrics, Duke University Medical Center, Durham, N. C., USA
    • Department of Medicine, Duke University Medical Center, Durham, N. C., USA
    • Department of Endocrine Division, Duke University Medical Center, Durham, N. C., USA
    • Address, Division of Pediatrics, Duke University Medical Center, Durham, N. C.
    • , M.D.
  • Frank L. Engel

      Affiliations

    • Department of Pediatrics, Duke University Medical Center, Durham, N. C., USA
    • Department of Medicine, Duke University Medical Center, Durham, N. C., USA
    • Department of Endocrine Division, Duke University Medical Center, Durham, N. C., USA

References 

  1. Wilkins L. The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence. ed. 2. Springfield, Ill.: Charles C Thomas, Publisher; 1957;
  2. Sikl H. Addison's Disease Due to Congenital Hypoplasia of the Adrenals in an Infant Aged 33 Days. J. Path. & Bact. 1948;60:323
  3. Deamer WC, Silver HK. Abnormalities in the Secretion of the Adrenal Cortex During Early Life. J. Pediat. 1950;37:490
  4. Williams A, Robinson MJ. Addison's Disease in Infancy. Arch. Dis. Childhood. 1956;31:265
  5. Harlem OK, Myhre E. Congenital Adrenal Hypoplasia: Report of a Case With the Characteristic Clinical Features of Dysadrenocorticism and Autopsy Findings of Extreme Hypoplasia of the Adrenal Glands. A. M. A. J. Dis. Child. 1957;94:696
  6. Mitchell RG, Rhaney K. Congenital Adrenal Hypoplasia in Siblings. Lancet. 1959;1:488
  7. Blizzard RM, Alberts M. Hypopituitarism, Hypoadrenalism, and Hypogonadism in the Newborn Infant. J. Pediat. 1956;48:782
  8. Mosier HD. Hypoplasia of the Pituitary and Adrenal Cortex: Report of Occurrence in Twin Siblings and Autopsy Findings. J. Pediat. 1956;48:633
  9. Brewer DB. Congenital Absence of the Pituitary Gland and Its Consequences. J. Path. & Bact. 1957;73:59
  10. Whitaker JA, Landing BH, Esselborn VM, Williams RR. The Syndrome of Familial Juvenile Hypoadrenocorticism, Hypoparathyroidism and Superficial Moniliasis. J. Clin. Endocrinol. 1956;16:1374
  11. Moehlig RC. Addison's Disease Followed for Nine Years: Case Report With Autopsy. J. Clin. Endocrinol. 1947;7:134
  12. Berlin R. Addison's Disease: Familial Incidence and Occurrence in Association With Pernicious Anemia. Acta med. scandinav. 1952;144:1
  13. Bie J. Morbus Addisonii hos børn: forekomst hos to søskende. Nord. med. 1956;55:193
  14. DeCock J, DeGraeff J, Smeenk D, Querido A. Chronic Primary Adrenal Insufficiency. Nederl. tijdschr. geneesk. 1957;101:2426
  15. Meakin JW, Nelson DH, Thorn GW. Addison's Disease in Two Brothers. J. Clin. Endocrinol. 1959;19:726
  16. Shephard TH, Landing BH, Mason DG. Familial Addison's Disease: Case Reports of Two Sisters With Corticoid Deficiency Unassociated With Hypoaldosteronism. A. M. A. J. Dis. Child. 1959;97:154
  17. Hudson JB, Chobanian AV, Relman AS. Hypoaldosteronism: A Clinical Study of a Patient With an Isolated Adrenal Mineralocorticoid Deficiency, Resulting in Hyperkaliemia and Stokes-Adams Attacks. New England J. Med. 1957;257:529
  18. Pedersen J, Sondergaard E. Partial Addison's Disease. Acta endocrinol. 1957;24:370
  19. Skanse B, Hökfelt B. Hypoaldosteronism With Otherwise Intact Adrenocortical Function, Resulting in a Characteristic Clinical Entity. Acta endocrinol. 1958;28:29
  20. Hills AG. Selective Hypoaldosteronism (editorial). Am. J. Med. 1959;26:503
  21. Reddy WJ. Modification of Reddy-Jenkins-Thorn Method for Estimation of 17-hydroxycorticosteroids in Urine. Metabolism. 1954;3:489
  22. Glenn EM, Nelson DM. Chemical Method for the Determination of 17-hydroxycorticosteroids and 17-ketosteroids in Urine Following Hydrolysis With B-glucuronidase. J. Clin. Endocrinol. 1953;13:911
  23. Nelson DH, Samuels LT. A Method for the Determination of 17-hydroxycorticosteroids in Blood: 17-hydroxycorticosterone in the Peripheral Circulation. J. Clin. Endocrinol. 1952;12:519
  24. Holtorff AF, Koch FC. The Colorimetric Estimation of 17-ketosteroids and Their Application to Urine Extracts. J. Biol. Chem. 1940;135:377
  25. Bongiovanni AM, Eberlein WR. Determination, Recovery, Identification and Renal Clearance of Conjugated Adrenal Corticoids in Human Peripheral Blood. In: Proc. Soc. Exper. Biol. & Med. 89:1955;p. 281
  26. Bongiovanni AM, Eberlein WR. Critical Analysis of Methods for Measurement of Pregnane-3-alpha, 17-alpha, 20-alpha-triol in Human Urine. Analyt. Chem. 1958;30:388
  27. Silber RH, Porter CC. The Determination of 17,21-dihydroxy-20-ketosteroids in Urine and Plasma. J. Biol. Chem. 1954;210:923
  28. Liddle GW, Duncan LE, Bartter FC. Dual Mechanism Regulating Adrenocortical Function in Man. Am. J. Med. 1956;21:380
  29. Blizzard RM, Liddle GW, Migeon CJ, Wilkins L. Aldosterone Excretion in Virilizing Adrenal Hyperplasia. J. Clin. Invest. 1959;38:1442

* This study was supported in part by grants (A-2819 and 2A-5074) from the Institute of Arthritis and Metabolic Diseases, National Institutes of Health, United States Public Health Service.

PII: S0022-3476(60)80252-1

The Journal of Pediatrics
Volume 57, Issue 3 , Pages 443-451 , September 1960

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