PubMed Health⌕ Search

Biomedical subjects

J Sólyom

Publications and source records attributed to J Sólyom.

At least 55 records · Page 3Linked to original sources

Value of selective screening for congenital adrenal hyperplasia in Hungary.

Measurement of the 17-hydroxyprogesterone concentration in blood spots was used to identify cases of congenital adrenal hyperplasia among patients with inappropriate virilisation, or salt wasting, or both. Between 1978 and 1986 61 were identified among 707 patients (278 neonates, 204 infants, and 225 children). The incidence of classic congenital adrenal hyperplasia was calculated for a seven year prospective trial period using the blood spot 17-hydroxyprogesterone method in selective screening. There were 38 salt losers and 14 simple virilisers in 968,303 live births, an incidence of congenital adrenal hyperplasia of 1:18,000 in the Hungarian population. Selective screening led to earlier diagnosis of congenital adrenal hyperplasia and a pronounced decrease in mortality. A central laboratory to measure the blood spot 17-hydroxyprogesterone concentrations is valuable for the investigation of patients at risk for congenital adrenal hyperplasia in countries where blood steroid assays are not readily available.

17-alpha-Hydroxyprogesterone↗

Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization.

We investigated the value of serum levels of adrenal steroids (dehydroepiandrosterone sulphate, testosterone, 17-hydroxyprogesterone, cortisol) in the identification in peripubertal females with late-onset congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Among 68 females (age 3-18 years) with virilization in childhood, peripubertally or postpubertally, we selected 21 girls for an ACTH test by measurement of basal blood-spot or serum 17-hydroxyprogesterone (17-OHP) levels. Eight of 21 patients had supranormal post-ACTH serum 17-OHP concentration (57-153 nmol/l) with low normal cortisol concentration. All of them had supranormal basal and post-ACTH 17-OHP to cortisol ratios. These data show a relatively high incidence (about 12%) of mild 21-hydroxylase deficiency among prepubertal and adolescent girls with virilization. It is concluded that the first step in the investigation of peripubertally virilized girls should be the determination of serum 17-OHP and cortisol. Patients with basal morning 17-OHP concentration and 17-OHP to cortisol ratio above reference range should be given an ACTH test.

17-alpha-Hydroxyprogesterone↗

Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia.

Blood spot 17-hydroxyprogesterone concentrations were measured serially over 24 hours in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency before they started treatment with glucocorticoids, and the development of diurnal rhythm in pituitary-adrenal activity was studied. Five infants aged 2 to 26 days showed an intradiem variation of 17-hydroxyprogesterone concentrations within the diagnostic range but without a characteristic diurnal pattern. Blood spot 17-hydroxyprogesterone values in a further eight patients aged 3 months to 6.5 years showed a diurnal rhythm, with high concentrations in the morning and a nadir in the evening. The results suggest that a diurnal rhythm in pituitary-adrenal activity may develop as early as the third month of life in those infants with an increased endogenous concentration of adrenocorticotrophic hormone.

17-alpha-Hydroxyprogesterone↗

Blood-spot 17 alpha-hydroxyprogesterone radioimmunoassay in the follow-up of congenital adrenal hyperplasia.

The value of plasma 17 alpha-hydroxyprogesterone (17 alpha-OHP) concentration in monitoring the treatment of congenital adrenal hyperplasia (CAH) was studied by using a capillary blood micromethod. The blood-spot 17-OHP radioimmunoassay method involves serial sampling throughout the day and sending the samples into the centre by mail. Follow-up of seven children treated for CAH due to 21-hydroxylase deficiency showed that a single measurement of plasma 17-OHP concentration cannot be relied upon to determine adequacy of control, since circadian variation and timing of the sample in relation to the last dose of glucocorticoid may influence the plasma level of 17 alpha-OHP. Our data confirm the value of sequential 17 alpha-OHP assays throughout the day in the follow-up of CAH. With the blood-spot method the 17 alpha-OHP determinations can be used on a wide scale for monitoring therapy.

Adolescent↗

"Dot-17 alpha-hydroxyprogesterone" radioimmunoassay for identification of congenital adrenal hyperplasia in young infants.

Using a simplified radioimmunoassay method for the determination of 17-hydroxyprogesterone (17-OHP) concentration in blood dried on filter paper seven untreated cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia (CAH) having ambiguous genitalia and/or failure to thrive with electrolyte disturbances. In three additional cases the diagnosis of congenital adrenal hyperplasia was confirmed by high 'dot-17-OHP' values even after glucocorticoid therapy had been started. Capillary blood samples taken in a local hospital on a filter paper routinely used for the screening of phenylketonuria can be sent by mail into a central laboratory for performing the analysis. Assays of 'dot-17-OHP' are clearly of diagnostic value in the C21-hydroxylase form of CAH and permit a rapid diagnosis of this condition in the newborn period.

Adrenal Hyperplasia, Congenital↗