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Biomedical subjects

I A Hughes

Publications and source records attributed to I A Hughes.

9 recordsLinked to original sources
PubMed1979

Antenatal diagnosis of congenital adrenal hyperplasia.

The concentration of 17-OH-progesterone (17-OHP) was measured retrospectively in a second-trimester amniotic-fluid sample obtained from a mother who had an infant with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The concentration was more than three times the mean amniotic-fluid-17OHP concentration determined in pregnancies of comparable gestational age with normal outcome. In four further pregnancies tested, where the parents were heterozygous for CAH, amniotic-fluid concentrations of 17-OHP were normal. To date, three of the mothers have delivered normal infants. CAH can be detected in early pregnancy by specific radioimmunoassay techniques for steroid-hormone analysis in amniotic fluid. This antenatal test could be useful in those cases in which parents do not wish to risk having affected offspring.

Adrenocortical Hyperfunction↗
PubMed1979

Plasma 17OH-progesterone concentrations in newborn infants.

Plasma concentrations of 17OH-progesterone were determined in 60 normal newborn infants aged between 3 and 36 hours. Mean levels decreased rapidly during this time after removal of the placental contribution of this steroid. A further 70 normal infants, studied between ages 2 and 7 days, showed a mean plasma 17OH-progesterone concentration of 3.5 nmol/1 (1.2 ng/ml). By comparison, plasma concentrations in untreated infants with congenital adrenal hyperplasia were markedly raised. At 36 hours of age, there was an obvious difference between plasma levels of this steroid in normal and affected infants. Determination of plasma 17OH-progesterone concentrations are valuable in the evaluation of disorders of sexual differentiation and electrolyte balance in newborn infants, provided due care is given to the timing of sample collections.

Adrenal Hyperplasia, Congenital↗
PubMed1979

Continuing need for mineralocorticoid therapy in salt-losing congenital adrenal hyperplasia.

Four patients with salt-losing congenital adrenal hyperplasia (CAH) who had stopped mineralocorticoid therapy for several years, showed raised plasma concentrations of 17OH-progesterone and plasma renin activity, despite adequate glucoticoid therapy. One patient was able to reduce urinary sodium excretion when the sodium intake was restricted. Another patient who was a salt-loser, developed signs of an adrenal crisis when salt deprived. In comparison, one nonsalt-loser and 2 normal subjects decreased urinary sodium excretion in response to sodium restriction. The addition of fludrocortisone (100 micrograms) to usual maintenance doses of glucocorticoid, resulted in normal levels of plasma 17OH-progesterone and plasma renin activity in all 4 salt-losers. Two female salt-losers, with raised plasma testosterone concentrations, began menstruating when their plasma testosterone concentrations returned to normal after treatment with fludrocortisone. It is recommended that salt-losing CAH patients should be given mineralocorticoid, in addition to glucocorticoid therapy, at least until adult life.

Adolescent↗
PubMed1979

Radioimmunoassay of 17 alpha-hydroxyprogesterone in saliva, parotid fluid, and plasma of congenital adrenal hyperplasia patients.

We report a radioimmunoassay sensitive enough to determine 17 alpha-hydroxyprogesterone concentrations in 200 microliter of parotid fluid or mixed whole saliva. Because the correlation of concentrations in matched samples of parotid fluid and saliva was excellent (r = 0.98), we exclusively used saliva, which is easier to collect, in later studies. The assay is specific; saliva samples assayed with and without thin-layer chromatographic purification showed no significant difference. The assay is also precise, and has a lower limit of sensitivity of 4 pg per assay tube. In 14 patients having congenital adrenal hyperplasia from a C21-hydroxylase enzyme deficiency, all of whom were receiving cortisol replacement therapy, the range in 17 alpha-hydroxyprogesterone concentrations observed in saliva (67-26,300 pmol/L) was about 20-fold that seen in 32 healthy children (90-1520 pmol/L). The close correlation (r = 0.91) between 17 alpha-hydroxyprogesterone concentrations in matched samples of saliva and plasma from these patients indicates that determination of steroids in saliva could well replace determination in plasma. This concept is supported by 17 alpha-hydroxyprogesterone concentrations monitored throughout 24 h from one patient and following stimulation with synthetic corticotropin in another patient.

Adolescent↗
PubMed1978

The relationships between serum concentrations of 17OH-progesterone and other serum and urinary steroids in patients with congenital adrenal hyperplasia.

Simultaneous determinations of serum concentrations of 17OH-progesterone, testosterone, androstenedione, and progesterone, and of urinary excretion of 17-ketosteroids and pregnanetriol have been performed at intervals in 31 patients with the C21-hydroxylase form of congenital adrenal hyperplasia. In prepubertal patients there were highly significant correlations between levels of 17OH-progesterone and those of testosterone, androstenedione, and progesterone, respectively. Similar correlations were observed in adolescent girls. In adolescent boys rising 17OH-progesterone levels were reflected by increasing levels of androstenedione and progesterone, but there was no change in serum testosterone concentrations. Levels of serum 17OH-progesterone below 200 ng/dl were uniformly associated with normal serum concentrations of testosterone, androstenedione, and progesterone, and normal urinary 17-ketosteroid and pregnanetriol excretion. In contrast, levels above 1000 ng/dl were accompanied by increased levels of the other steroids except in adolescent males; in this group the finding of unchanging serum testosterone concentrations in spite of rising 17OH-progesterone levels presumably indicates that testosterone of adrenal origin causes suppression of testicular testosterone production, either through a direct effect upon Leydig cells or via suppression of LH release.

17-Ketosteroids↗