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Biomedical subjects

A Cassio

Publications and source records attributed to A Cassio.

48 records · Page 3Linked to original sources
PubMed1980

Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.

Serum androgens and 17-hydroxyprogesterone concentrations and HLA genotypes were determined in 124 families of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). In 8 pedigrees, we discovered 16 pubertal or postpubertal family members of either sex who had biochemical evidence of 21-hydroxylase deficiency but were without clinical symptoms of excess virilism, amenorrhea, or infertility. We designated these family members as individuals with cryptic 21-hydroxylase deficiency. Within each generation, the family members with cryptic 21-hydroxylase deficiency were HLA identical. It is proposed that these family members are genetic compounds, having 21-hydroxylase deficiency as a result of two recessive gene defects: 1) a severe 21-hydroxylase gene defect present in the index case with classical CAH (21-OHCAH) and 2) a mild 21-hydroxylase gene defect (21-OHCRYPTIC). Thus, the CAH genotype in the family members with cryptic 21-hydroxylase deficiency is 21-OHCAH/21-OHCRYPTIC. Lod score analysis for linkage between the cryptogenic 21-OH trait and HLA gave a combined Lod score for males and females of theta = 0.00 of 3.409. Close genetic linkage between HLA and 21-OHCRYPTIC was thus established. This study provides support for the previously reported heterogeneity of 21-hydroxylase deficiency which may result from allelic variability at the locus for steroid 21-hydroxylase.

17-alpha-Hydroxypregnenolone↗
PubMedDate not supplied

Gonadal and adrenal secretion of dehydroepiandrosterone sulfate in prepubertal and pubertal subjects.

The Authors have evaluated the relationship between the secretion of dehydroepiandrosterone sulfate (DHA-S) by the adrenal glands and by the gonads in a group of prepubertal and pubertal subjects ("short normal"), both males and females. In the male subjects of a hCG test and an ACTH test were performed; in the female subjects only the latter test was carried out. The behavior of DHA-S under basal conditions was also assessed in both sexes and related to bone age and chronological age in the prepubertal period and during the early stages of puberty. Plasma levels of DHA-S in both sexes increase progressively with chronological age and bone age. A negative correlation was found between DHA-S and bone delay (expressed in percent relative to chronological age) in prepubertal subjects, both males and females. A significant increase in DHA-S after hCG stimulation was found both in prepubertal and pubertal boys. After ACTH stimulation DHA-S increased significantly in prepubertal and pubertal males and females; throughout the test no difference was found between prepubertal and pubertal subjects nor between male and female subjects. Our data confirm that DHA-S is produced both by the adrenals and by the testes.

Adolescent↗
PubMedDate not supplied

Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-alpha-hydroxyprogesterone assay.

A micromethod for measuring 17 alpha-hydroxyprogesterone in blood collected on filter paper has been developed. Our method is rapid, easy and has the specificity, accuracy and precision of the radioimmunoassay in whole blood. The method has been applied for screening patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Fifty samples collected on filter paper were assayed by our method, using 125I as tracer, and results were compared with those obtained for the same samples using a tritium tracer. The agreement between the two methods was particularly good in the area ranging from 15 to 100 pg/disc. In one neonate the diagnosis of CAH was made utilizing the microfilter paper method. Our method is a promising screening test for CAH. An indication of the advantages or disadvantages of this type of screening will become available when an adequate number of infants has been examined.

Adrenal Hyperplasia, Congenital↗
PubMedDate not supplied

[Neuropsychological follow-up of children with phenylketonuria treated early].

We evaluated, yearly, the neuro-psychological development in 16 out of the 27 children with phenylketonuria detected via neonatal screening in the years 1980-90. 14 children had the classical form, while 2 had "variant" type of phenylketonuria. Development quotients always were slightly lower in patients than in controls, but the greatest difference was seen at 1 year of age (92.5 +/- 6.7 vs 101.6 +/- 2.2). At age 6 years, 4 children out of 11 had a IQ equal or below 90.2 of them had neonatal asphyxia, while the others showed, after age 2-4, constantly elevated phenylalanine levels. Four children had a bad metabolic control, as from the age of 2-4 year, and only 1 of them showed a normal IQ at 6 years of age. Regression analyses were used to determine the best predictors of IQ. Parents' social level stood out as the best predictor of IQ at 6 years of age. If this parameter was excluded, phenylalanine level, especially at age 4, best predicted IQ. The following variables had no influence: age at start of diet (they were all begun on diet within the first month of life), pre-diet phenylalanine levels and phenylalanine levels at 1 year of age (all children were, at this age, on good control), DQ (Development Quotient) at age 1. A high percentage (10 out 14) of hyperactive and psychologically instable children was also found, but with no correlations with IQ levels.

Age Factors↗
PubMedDate not supplied

[Neonatal screening for congenital hypothyroidism. Experience at a Regional Center].

We examined 107,670 infants born in the Italian region Emilia-Romagna. Capillary blood samples for contemporary T4 and TSH radioimmunoassay were collected on the 3rd, 4th, 5th, 6th, 7th or between the 7th and the 15th day of life on filter paper. In our method the threshold value for recall for a second assay was calculated taking into account the mean - 2 SD of each session for T4, and fixing between 30 and 50 microU/ml the threshold value for TSH. The re-call percentage was 0.74%. 21 subjects confirmed to be affected by congenital hypothyroidism; this corresponds to a frequency in our region of 1 case every 5,127 infants. 12 subjects had a TBG deficiency, this corresponds to a frequency of 1 case every 8,972 infants. No cases of secondary hypothyroidism were found up to date.

Age Factors↗
PubMedDate not supplied

[Short-term comparison of the treatment of precocious puberty with 2 different LHRH antagonists (buserelin and long-acting triptorelin). An endocrinologic and echographic study].

To compare the short term effects of a short (Buserelin, 1800 micrograms/day as nasal spray) and a long acting (Triptorelin Depot, 3.75 mg/every 4 weeks i.m.) LHRH agonist, LH and FSH (LHRH test and 2 hours spontaneous rhythm during the morning and during the evening), estradiol and pelvic ultrasonography were evaluated in 12 children (1 boy, mean age 8.24 +/- 1.39 years, mean bone age 9.39 +/- 1.76 years) with early puberty before and after 1 and 2 months of treatment. Informed consent was obtained in all the cases. 6 patients started with Buserelin and 6 with Triptorelin. The therapeutic regimen was crossed over after 2 months of treatment and 2 more months of treatment withdrawal. The results indicate that while in both groups FSH values decreased significantly already from the last month of treatment, patients treated with Triptorelin showed a later LH decrease (significant only after 2 months of treatment). A decrease of pelvic structures volume was however evident only in patients treated with Triptorelin. After 2 months of treatment estradiol levels lowered (but not significantly) in both group. In conclusion despite a later LH decrement, patients treated with the long acting analogue showed however a more evident reduction of pelvic organs volume.

Buserelin↗
PubMedDate not supplied

[Corticosteroid treatment regimes and growth hormone secretion in congenital adrenogenital syndrome].

11 patients with 21-hydroxylase deficiency were treated with three different corticosteroids and two different distributions of therapy during daytime. We found that: 1) a higher dose of steroid in the evening had a markedly inhibitory effect on nocturnal GH secretion; 2) of the steroids we used, dexamethasone caused the greatest reduction in nocturnal GH secretion; 3) in this study adrenal hormones seem less influenced by the different distribution of the corticosteroids during the 24 hours period.

Adolescent↗