Partial Characterization of Urinary Adrenocortical Steroids in Adrenal Hyperplasia 1

Eberlein, Walter R.; Bongiovanni, Alfred M.

doi:10.1172/jci103181

Cited by 47 publications

(23 citation statements)

References 19 publications

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“…In accordance with the scheme of adrenocorticosteroid biogenesis suggested by Hechter and his coworkers (25), Jailer has suggested that a block exists in the conversion of 17a hydroxyprogesterone into compound F (17). Substantiation of Jailer's hypothesis has been given by the demonstration by Bongiovanni and his'co-workers that 3a-17c-20a-pregnanetriol is the steroid found in greatest quantity in the urine of affected patients (6,7,26,27). In addition, administration of ACTH to patients with adrenal hyperplasia has caused a rise in urinary pregnanetriol, frequently of greater magnitude than the increase of 17-ketosteroids (7,26).…”

Section: Expression In Possible Heterozygotesmentioning

confidence: 78%

Virilizing Adrenal Hyperplasia; A Genetic and Hormonal Study 1

Childs¹,

Grumbach²,

Wyk³

1956

J. Clin. Invest.

160

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It is not at all unusual to find other affected children among the brothers and sisters of patients with virilizing adrenal hyperplasia. Such familial aggregations of affected children suggest, at least, a genetic basis for the condition at hand, and when the affected individuals are distributed in one generation only, there is a possibility that the condition is due to a mutant gene which finds obvious expression in the homozygote. This mode of inheritance for a possible gene responsible for virilizing adrenal hyperplasia has been suggested (1-3). Knudson (2) obtained information on 8 families, including 11 affected children. To these he added 26 families taken from the literature in which there were 32 affected children. Comparison of the observed number of affected sibs of index cases with that expected indicated sufficient agreement to favor the hypothesis of a recessive gene. All of Knudson's cases, however, were patients who showed evidence of electrolyte disturbance, and there appears to be no study which includes all types of cases which fall into this syndrome. This paper consists of information pertaining to a possible genetic etiology of this disease, obtained from 56 families containing one or more affected individuals, and an hormonal study of a group of parents of affected children. An exhaustive review of the literature is not relevant here, since our interpretations are based only upon the results of the analysis of our own data and not upon information from families that has been presented in other articles. MATERIALS AND METHODSThe data were obtained from the families of all patients with virilizing adrenal hyperplasia who were examined and diagnosed in the endocrine clinic of the Harriet Lane Home since 1945. Diagnostic criteria are those given by Wilkins (4). In each instance the information was given by the mother or responsible parent, and in a few cases by the patient himself. Some questions were put by means of a questionnaire which was mailed to all families, but since in some cases parents failed to answer the questionnaire and were otherwise unavailable, the data are in certain aspects incomplete.The data consist of information pertaining to: disease in sibs and other relatives, together with intra-family characteristics of the disease; age of sibs, their sex, maternal age at birth, birth order, death, age, cause, and place of death; maternal gestation and parturition; parental consanguinity; and size of the families of both parents.In some families all affected children were patients of the endocrine clinic, but there were 12 sibs of endocrine clinic patients who are presumed to have or have had the disease, who have never been seen in the Harriet Lane Home. Of these, 3 are still living, and detailed inquiry reveals that a firm diagnosis has been made on all three. The remaining 9 were dead by the time the index case was seen here. A diagnosis, either during life or at autopsy, was made elsewhere on 5 of these. This leaves 4 cases who were dead and who were not diagnosed as patients ...

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Section: Expression In Possible Heterozygotesmentioning

confidence: 78%

Virilizing Adrenal Hyperplasia; A Genetic and Hormonal Study 1

Childs¹,

Grumbach²,

Wyk³

1956

J. Clin. Invest.

160

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“…A deficiency of 21-hydroxylation has been reported in both the nonsalt-losing and the salt-losing forms of congenital adrenal hyperplasia (1)(2)(3)(4). Cortisol and aldosterone, the two biologically significant steroids secreted by the human adrenal cortex, require 21-hydroxylation for their biosynthesis.…”

Section: Discussionmentioning

confidence: 99%

Aldosterone Secretion Rate in Congenital Adrenal Hyperplasia. A Discussion of the Theories on the Pathogenesis of the Salt-losing Form of the Syndrome*

Kowarski¹,

Finkelstein²,

Spaulding³

et al. 1965

J. Clin. Invest.

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“…CAH due to 21-hydroxylase deficiency was first accepted in 1955 5 and now constitutes a spectrum of disease with varying severity and biochemical features consistent with expression of mutations in the CYP21A2 gene. The laboratory often gets requests for 17-OHP during investigations of patients with androgen excess.…”

Section: Introductionmentioning

confidence: 99%

17-Hydroxyprogesterone in children, adolescents and adults

Honour

2014

Ann Clin Biochem

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17-Hydroxyprogesterone (17-OHP) is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-OHP, while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. The classical congenital adrenal hyperplasia (CAH) presents usually with virilisation of a girl at birth. Affected boys and girls can have renal salt loss within a few days if aldosterone production is also compromised. Diagnosis can be delayed in boys. A non-classical form of congenital adrenal hyperplasia (NC-CAH) presents later in life usually with androgen excess. Moderately raised or normal 17-OHP concentrations can be seen basally but, if normal and clinical suspicion is high, an ACTH stimulation test will show 17-OHP concentrations (typically >30 nmol/L) above the normal response. NC-CAH is more likely to be detected clinically in females and may be asymptomatic particularly in males until families are investigated. The prevalence of NC-CAH in women with androgen excess can be up to 9% according to ethnic background and genotype. Mutations in the 21-hydroxylase genes in NC-CAH can be found that have less deleterious effects on enzyme activity. Other less-common defects in enzymes of cortisol synthesis can be associated with moderately elevated 17-OHP. Precocious puberty, acne, hirsutism and subfertility are the commonest features of hyperandrogenism. 17-OHP is a diagnostic marker for CAH but opinions differ on the role of 17OHP or androstenedione in monitoring treatment with renin in the salt losing form. This review considers the utility of 17-OHP measurements in children, adolescents and adults.

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Partial Characterization of Urinary Adrenocortical Steroids in Adrenal Hyperplasia 1

Cited by 47 publications

References 19 publications

Virilizing Adrenal Hyperplasia; A Genetic and Hormonal Study 1

Virilizing Adrenal Hyperplasia; A Genetic and Hormonal Study 1

Aldosterone Secretion Rate in Congenital Adrenal Hyperplasia. A Discussion of the Theories on the Pathogenesis of the Salt-losing Form of the Syndrome*

17-Hydroxyprogesterone in children, adolescents and adults

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