Congenital adrenal hyperplasia (pseudohermaphroditism) before and after cortisone therapy

1956 ◽  
Vol 72 (2) ◽  
pp. 404-415 ◽  
Author(s):  
Elizabeth Knapp Smith ◽  
Russell R. de Alvarez
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Before And After ◽  
Cortisone Therapy

CHROMATOGRAPHY OF THE 17-KETOGENIC STEROIDS IN THE DIAGNOSIS AND CONTROL OF CONGENITAL ADRENAL HYPERPLASIA

1960 ◽  
Vol XXXIII (II) ◽  
pp. 230-250 ◽  
Author(s):  
Eileen E. Hill
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Normal Children ◽  
Paediatric Practice ◽  
The Mean ◽  
Cortisone Therapy ◽  
And Control ◽  
Clinical Problems ◽  
Stimulation Of

ABSTRACT A method for the fractionation of the urinary 17-ketogenic steroids with no oxygen grouping at C11 and those oxygenated at C11, is applied to the clinical problems of congenital adrenal hyperplasia. In normal children the mean ratio of the non-oxygenated to oxygenated steroids is 0.24. In childrern with congenital adrenal hyperplasia the ratio is 2.3. The reason for this difference in ratio is discussed. The changes in ratio found under stimulation of the adrenal gland with exogenous or endogenous corticotrophin and the suppression with cortisone therapy are studied. This test can be applied to isolated samples of urine, a major advantage in paediatric practice, and can be carried out in routine laboratories. It is found to be reliable in the diagnosis and sensitive in the control of congenital adrenal hyperplasia.

Effect of cortisone therapy on the diurnal pattern of growth hormone secretion in congenital adrenal hyperplasia

1972 ◽  
Vol 80 (3) ◽  
pp. 433-440 ◽  
Author(s):  
A.M. Vazquez ◽  
Joseph C. Schutt-Aine ◽  
Frederic M. Kenny ◽  
Catherine Richards ◽  
Diane Anthony
Keyword(s):  
Growth Hormone ◽  
Congenital Adrenal Hyperplasia ◽  
Hormone Secretion ◽  
Growth Hormone Secretion ◽  
Diurnal Pattern ◽  
Adrenal Hyperplasia ◽  
Cortisone Therapy

PSYCHOLOGIC STUDIES BEFORE AND AFTER CLITORIDECTOMY IN FEMALE PSEUDOHERMAPHRODITISM CAUSED BY CONGENITAL VIRILIZING ADRENAL HYPERPLASIA

PEDIATRICS ◽  
1958 ◽  
Vol 21 (5) ◽  
pp. 832-839
Author(s):  
Alan K. Rosenwald ◽  
Joseph H. Handlon ◽  
Ira M. Rosenthal ◽  
John S. Hyde ◽  
I. Pat Bronstein
Keyword(s):  
Adverse Effects ◽  
Congenital Adrenal Hyperplasia ◽  
Diagnostic Error ◽  
Adrenal Hyperplasia ◽  
Adrenogenital Syndrome ◽  
General Change ◽  
Female Pseudohermaphroditism ◽  
Sex Assignment ◽  
Before And After ◽  
Special Circumstances

Psychobogic tests were performed with five female pseudohermaphrodites with congenital adrenal hyperplasia both before and some time after clitoridectomy. Of these children, four had been reared as girls. The child who had been reared as a boy underwent change of sex assignment at the age of 6 years, after performance of the initial psychologic tests. None of the children showed evidence of significant psychopathology before clitoridectomy. None showed evidence of deleterious psychologic effects after the operation. The child whose sex was changed at the age of 6 years apparently made a good adjustment and showed no adverse effects as evaluated by psychologic tests. If there is no significant psychopathology, clitoridectomy may be performed without fear of deleterious psychologic effects in female pseudohermaphrodites who have been reared as girls. While, in general, change of sex assignment should not be done in any hermaphrodite beyond the infantile age period, female pseudohermaphrodites with adrenogenital syndrome who have been reared as boys, because of an original diagnostic error, should be individually evaluated with regard to possible change of sex assignment. Despite the apparent success in the case reported here with its unusual special circumstances, the psychologic hazards involved will make reassignment of sex inadvisable in most of these cases.

PARTIAL 3β-HYDROXYSTEROID DEHYDROGENASE (3β-HSD) DEFICIENCY IN A FAMILY WITH CONGENITAL ADRENAL HYPERPLASIA: EVIDENCE FOR INCREASING 3β-HSD ACTIVITY WITH AGE

PEDIATRICS ◽  
1971 ◽  
Vol 48 (5) ◽  
pp. 756-765
Author(s):  
Frederic M. Kenny ◽  
John W. Reynolds ◽  
Orville C. Green
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Hydroxysteroid Dehydrogenase ◽  
Sodium Balance ◽  
Adrenal Hyperplasia ◽  
Steroid Excretion ◽  
Cortisone Therapy

In the siblings reported, two affected boys have perineal hypospadias and bifid scrotum, and two affected girls have slight clitoral enlargement with otherwise normal genitalia. All are mild "salt losers" with spontaneous crises occurring late (3 months and 2 years) in the boys. The girls had negative sodium balance and hyponatremia only when stressed by salt deprivation at age 3 weeks and 4 years respectively. All had elevated 17-ketosteroid excretion when diagnosed, and in the two youngest, urinary dehydroisoandrosterone (DHA) exceeded androsterone. Cortisol production and/or 17-hydroxycorticosteroid excretions were normal. Steroid excretion patterns showed an increase of 3β-hydroxysteroid dehydrogenase (3-βHSD) activity with increased age, but with a persisting high excretion of pregrienetriol. At 2 months of age, one girl excreted per 24 hours: pregnanetriol–0.23 mg, pregnenetriol–1.2 mg, 17α- OH-pregnenolone–-2.6 mg, 16α-OH-pregnenolone– 8.2 mg, 16α-OH-DHA–5.4 mg, and DHA–0.5 mg. Her sister, at age 10 years, during withdrawal of cortisone therapy, excreted per 24 hours: pregnanetriol– 24 mg, pregnenetriol–14 mg, DHA–1.2 mg, and no 16αOH-pregnenolone or 16α-OH-DHA. We conclude that these patients have partial 3β-HSD deficiencies on the basis of inadequate fetal virilization and persistent postnatal excretion of large amounts of pregnenetriol. Possible explanations for the preponderance of urinary C-21 over C-19 steroids and for the large excretion of pregnanetriol are presented.

ALDOSTERONE- AND CORTISOL SECRETION RATES IN INFANTS AND CHILDREN WITH CONGENITAL ADRENAL HYPERPLASIA SUGGESTING DIFFERENT 21-HYDROXYLATION DEFECTS IN »SALT-LOSERS« AND »NON SALT-LOSERS«

1965 ◽  
Vol 48 (4) ◽  
pp. 587-601 ◽  
Author(s):  
Herman J. Degenhart ◽  
Hendrick K. A. Visser ◽  
Rineke Wilmink ◽  
Wim Croughs
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Infants And Children ◽  
Cortisol Secretion ◽  
Adrenal Hyperplasia ◽  
Normal Range ◽  
Aldosterone Secretion ◽  
Different Types ◽  
Before And After ◽  
Double Isotope ◽  
Secretion Rates

ABSTRACT Aldosterone- and cortisol secretion rates were determined in nine infants and children with congenital adrenal hyperplasia (21-hydroxylation defects), three with the salt-losing type. Aldosterone secretion rates were determined before and after salt-deprivation for 4–6 days, using the double isotope dilution technique of Kliman & Peterson (1960). Cortisol secretion rates were determined before and on the third day of stimulation with ACTH-gel, 2 × 60 IU per day, using the method described by Cope & Black (1958). Aldosterone secretion rates were normal in the »non salt-losers« (60–125 μg/24 h) and rose after salt-deprivation (100–380 μg/24 h). Extremely low values were found in the three patients with the salt-losing type (< 10 μg/24 h) and during salt-deprivation no increase was observed. Cortisol secretion rates before ACTH were in the normal range for all patients (4.2–34 mg/24 h; 12–33 mg/m2/24 h) except for one infant with the salt-losing type (< 0.5 mg/24 h). ACTH raised cortisol secretion rates in all »non salt-losers« (17–104 mg/24 h), but the increase was less than could be expected under normal conditions and the relative defect in the biosynthesis of cortisol was demonstrated in this way. Cortisol secretion rates after ACTH in the »salt-losers« were distinctly lower as compared with the »non salt-losers«. »Salt-losing« and »non salt-losing« types of congenital adrenal hyperplasia as a result of 21-hydroxylation defects in the biosynthesis of cortisol and aldosterone represent two different genotypes. The results of these studies also suggest that both groups of patients represent biochemically two different types of the same disorder. This could be explained by two different genetically controlled changes in the 21-hydroxylation process, resulting in a different defect in the hydroxylation of progesterone and 17α-hydroxyprogesterone.

CONGENITAL ADRENAL HYPERPLASIA: SIMULTANEOUS DETERMINATION OF PLASMA ALDOSTERONE AND 17-HYDROXYPROGESTERONE

1978 ◽  
Vol 87 (1) ◽  
pp. 148-157 ◽  
Author(s):  
K. Parth ◽  
H. Zimprich ◽  
W. Swoboda ◽  
Roswitha Brunel ◽  
Edith Bohrn
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
The Other ◽  
Detectable Effect ◽  
Adrenal Hyperplasia ◽  
Normal Range ◽  
Hydroxylase Deficiency ◽  
Before And After ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency ◽  
Withdrawal Of Therapy

ABSTRACT Plasma levels of aldosterne and 17-hydroxyprogesterone were determined in 5 just diagnosed cases of congenital adrenal hyperplasia due to 21-hydroxylase deficiency without salt-loss before onset of therapy, and in 14 children suffering from the same disorder, under glucocorticoid therapy before and after withdrawal of therapy for one week as well as before and after ACTH-stimulation. Furthermore, urinary pregnanetriol, pregnanetriolone, 17-ketosteroids and 17-ketogenic steroids were determined with and without therapy. Serum concentrations of 17-hydroxyprogesterone in patients before onset of therapy were at least 40 times above the normal range (normal range: 0.39 ± 0.23 ng/ml determined in 19 children of age 1–12 years), aldosterone was also elevated (range 16.5–84.4 ng/100 ml, normal aldosterone being 7.3 ± 4.7 ng/ml). In contrast, well controlled patients (judged on urinary pregnanetriol-excretion) had normal aldosterone (one exception) and 17-hydroxyprogesterone levels below 5 ng/ml. Both steroids were well stimulated by ACTH. In 3 poorly controlled cases elevated pregnanetriol and 17-hydroxyprogesterone values up to 130.9 ng/ml were found. Withdrawal of therapy resulted in pronounced rise of aldosterone and 17-hydroxyprogesterone. Exogenous ACTH had no detectable effect in 7 cases leading to further stimulation in the other children. We found an excellent correlation between plasma 17-hydroxyprogesterone and urinary pregnanetriol (r = 0.84, P < 0.003, n = 14). Fairly good correlation also exists between aldosterone and 17-hydroxyprogesterone values (r = 0.65, P < 0.01, n = 14) in patients before the onset and after withdrawal of therapy. The data confirm the value of 17-hydroxyprogesterone determinations for diagnosis and management of congenital adrenal hyperplasia on the one hand, and the compensatory elevated aldosterone production in the non-salt-losing form of the disorder on the other.

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