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PMID: 5312341 Published · ppublish English Journal Article

Congenital adrenal hypoplasia--an X-linked disease.

Journal of medical genetics ·Vol. 7 ·No. 1 ·1970-03-00 ·Pages 27-32

Weiss L, Mellinger RC

Abstract

暂无摘要

MeSH Terms
Adrenal Insufficiency/congenital,genetics,pathology Blood Group Antigens Child, Preschool Color Vision Defects Female Genes, Recessive Humans Infant Infant, Newborn Male Pedigree Pituitary-Adrenal Function Tests Sex Chromosomes
Chemicals
Blood Group Antigens
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Weiss L
Mellinger R C
References (19)
19 references, click to expand
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  2. Familial congenital adrenal hypoplasia.
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  4. Abnormalities in the secretion of the adrenal cortex during early life.
    J Pediatr. 1950 Oct;37(4):490-516 PMID: 14779250
  5. Adrenocortical insufficiency observed in three male infants in one family.
    J Med Assoc Ga. 1952 May;41(7):299-304 PMID: 12981471
  6. A simplified method for the routine determination of pregnanediol and pregnanetriol in urine.
    Bull Johns Hopkins Hosp. 1954 Apr;94(4):180-6 PMID: 13160676
  7. Adrenal cortical insufficiency in infants simulating high intestinal obstruction.
    Am J Roentgenol Radium Ther Nucl Med. 1955 Aug;74(2):213-9 PMID: 13238654
  8. Addison's disease in infancy.
    Arch Dis Child. 1956 Aug;31(158):265-9 PMID: 13363464
  9. Acute adrenal insufficiency due to congenital defect.
    AMA J Dis Child. 1957 Sep;94(3):282-5 PMID: 13457658
  10. Congenital adrenal hypoplasia; report of a case with the characteristic clinical features of dysadrenocorticism and autopsy findings of extreme hypoplasia of the adrenal glands.
    AMA J Dis Child. 1957 Dec;94(6):696-701 PMID: 13478304
  11. Study of the Norymberski methods for determination of 17-ketogenic steroids (17-hydroxycorticosteroids) in urine.
    J Clin Endocrinol Metab. 1958 Feb;18(2):208-21 PMID: 13502449
  12. Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism.
    AMA J Dis Child. 1959 Feb;97(2):154-62 PMID: 13616862
  13. Congenital adrenal hypoplasia in siblings.
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    Arch Pathol. 1961 Mar;71:324-9 PMID: 13785884
  15. A rapid method for measuring 17-hydroxycorticosteroids in urine.
    J Endocrinol. 1963 Jun;26:415-23 PMID: 13935171
  16. Adrenocortical hypoplasia in the newborn infant; report of a case with replacement therapy.
    N Engl J Med. 1950 Jan 19;242(3):87-9, illust PMID: 15399858
  17. A quantitative color reaction for cortisone and related 17,21-dihydroxy-20-ketosteroids.
    J Biol Chem. 1950 Jul;185(1):201-7 PMID: 15436491
  18. [Simple congenital hypocorticalism].
    Acta Paediatr Belg. 1955;9(4):169-81 PMID: 13301705
  19. Adrenal insufficiency in infancy; a clinical classification, review, and a report of a case.
    J Pediatr. 1950 Jul;37(1):1-22 PMID: 15428950
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.7.1.27
Published
1970-03-00
Pages
27-32
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1468897
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.7.1.27 PMC Full Text View journal details
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