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Der Internist Mar 1994
Review
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Child; Female; Genetic Carrier Screening; Humans; Hydrocortisone; Male; Prenatal Diagnosis; Puberty, Precocious; Sex Characteristics; Sexual Maturation
PubMed: 8175285
DOI: No ID Found -
Tijdschrift Voor Kindergeneeskunde Aug 1989The adrenogenital syndrome (AGS) is a relatively common inherited metabolic disease, generally caused by a deficiency of the adrenocortical enzyme steroid... (Review)
Review
The adrenogenital syndrome (AGS) is a relatively common inherited metabolic disease, generally caused by a deficiency of the adrenocortical enzyme steroid 21-hydroxylase. This results in an insufficient biosynthesis of several important steroid hormones such as cortisol and aldosterone, and, on the other hand, in a strongly increased production of androgens (testosterone). In girls, virilization of the external genitals is usually seen. In some patients, severe salt loss occurs shortly after birth, and a life-threatening crisis may develop. Mild variants of the disease have also been described. Steroid 21-hydroxylase is encoded by a gene within the HLA complex on the short arm of chromosome 6. HLA typing thus allows the study of the hereditary transmission of several forms of the AGS. In addition, molecular biology at present opens new perspectives to fundamental and clinical genetic research.
Topics: Adrenal Hyperplasia, Congenital; HLA Antigens; Humans; Infant, Newborn; Pedigree; Steroid Hydroxylases
PubMed: 2678599
DOI: No ID Found -
Ugeskrift For Laeger Apr 1995Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in... (Review)
Review
Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in early childhood, and must be intensively controlled in order to achieve a normal growth, pubertal maturation and fertility. This article reviews the pathogenesis and genetic and clinical characteristics underlying congenital adrenal hyperplasia, and outlines pre- and postnatal approaches to the diagnosis and monitoring, with special emphasis on 21-hydroxylase defect.
Topics: Adrenal Hyperplasia, Congenital; Humans; Prenatal Diagnosis
PubMed: 7652967
DOI: No ID Found -
Proceedings of the Royal Society of... Oct 1960
Topics: Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Disease Management
PubMed: 13716435
DOI: No ID Found -
American Journal of Diseases of... May 1961
Topics: Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Female; Genitalia, Female; Humans; Male; Urethra
PubMed: 13743163
DOI: 10.1001/archpedi.1961.04020060103015 -
Medical Record (Reading, Pa.) Sep 1948
Topics: Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome
PubMed: 18885014
DOI: No ID Found -
La Semana Medica Mar 1946
Topics: Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome
PubMed: 21022848
DOI: No ID Found -
The Lahey Clinic Bulletin Jan 1955
Topics: Adrenal Cortex; Adrenal Cortex Neoplasms; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Humans
PubMed: 14354911
DOI: No ID Found -
Lancet (London, England) Jun 1952
Topics: Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome
PubMed: 14939794
DOI: No ID Found -
Acta Medica Scandinavica 1954
Topics: Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome
PubMed: 13206684
DOI: 10.1111/j.0954-6820.1954.tb18622.x