[Detection of congenital hypothyroidism in 26,282 newborn infants].
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Biomedical subjects
Publications and source records attributed to M Roger.
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The functional endocrine reserve of testes was studied in 58 boys before and during puberty at different stages of chronic renal failure. Plasma testosterone (T) and dihydro- T were measured before and seven days after stimulation with human chorionic gonadotrophin (HCG). The T response to HCG often appeared to be already subnormal in renal failure before puberty had started. A negative correlation was observed in prepubertal boys between serum creatinine and stimulated T levels before the start of dialysis. During puberty the response to HCG was lower in boys on conservative treatment and on haemodialysis than after transplantation.
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Plasma luteinizing hormone (LH-human chorionic gonadotropin (hCG) and beta-hCG activities were measured during the late luteal phase in 321 cycles of 147 infertile women. In 71 cycles the hCG measurement permitted the diagnosis of pregnancy between the 10th and 14th days after the thermal nadir. The slope of the regression line derived from hCG levels during the first 22 days of pregnancy was significantly lower in pregnancies which aborted before the 60th day than in normal pregnancies (P less than 0.01). Among 72 cycles ended by apparently normal menses which exhibited an LH-hCG activity at least equal to 7 mIU of hCG/ml during the late luteal phase, the beta-hCG activity was measured in 49 cycles during which hCG had not been given. Significant beta-hCG activity (greater than or equal to 4 mIU of hCG/ml) was detected in 19 cases. This finding supports the assumption that secretory trophoblastic tissue had been present and that spontaneous menstrual abortions had occurred in these women.
Plasma testosterone was longitudinally studied during the first months of life in 7 XY infants with male pseudohermaphroditism. In two, the physiological postnatal rise of plasma testosterone was absent or blunted. A combined adrenal and testicular enzymatic defect was demonstrated in these two boys. In 5, a normal postnatal testosterone rise demonstrated a normal Leydig cell function. The longitudinal study of the physiologic postnatal rise of testosterone may be useful to distinguish secretory defects from responsiveness abnormalities thus improving the choice of gender in male pseudohermaphrodites.
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Glucocorticoids, mineralocorticoids, and adrenal androgens were studied in 3 groups of patients: control subjects (group I), hyperprolactinemic subjects (group II) and miscellaneous patients including chromophobe adenomas and normalized hyperprolactinemic subjects treated with Bromocriptine (group III). All the patients were studied in the basal state and under various conditions: Metyrapone, ACTH, TRH for glucocorticoids, ACTH, TRH, saline perfusion for mineralocorticoids, ACTH and TRH for androgens. It is concluded that: the adrenal secretion of glucocorticoids, mineralocorticoids and androgens is not altered under basal conditions in chronic hyperprolactinemia nor during dynamic tests in chronic hyperprolactinemia (prolactin adenoma) nor in acute hyperprolactinemia (induced by TRH).
The results of a controlled trial in 22 patients indicated that levamisole, administered in a dose of 150 mg per day for 2 months, was more effective than a placebo on the clinical symptoms and signs of rheumatoid arthritis. Side effects were seen in 8 of the 12 patients treated with levamisole. They necessitated the premature interruption of treatment in three, but were never serious (no cases of agranulocytosis were seen). In the group treated with levamisole, there was a slight decrease in sedimentation rate, a significant fall in levels of the C3 fraction of serum complement and of circulating immune complexes (detected by polyethylene glycol), and a significant increase in cutaneous reaction to tuberculin and to candidin. By contrast, there were no significant variations in levels of rheumatoid factor, serum immunoglobulins, C4 fraction of complement, lymphocyte transformation indices in the presence of six dilutions of phytohaemagglutinin, nor in the percentages of T and B lymphocytes. The effectiveness of levamisole in rheumatoid arthritis would appear to be demonstrated, but its mode of action remains open to discussion, in the absence of any definite correlation between therapeutic activity and the immunostimulant effects of the drug.
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The clinical and endocrine features of fifty cases of male pseudohermaphroditism and XY karyotype aged from 6 months to 20 years have been studied. Thirty-two subjects were pre-pubertal and eighteen, of whom ten developed gynaecomastia, were pubertal. A definite aetiology was established in 12%. 4% had deficient testosterone biosynthesis and 8% mixed gonadal dysgenesis. In the remaining 88% an aetiology of androgen unresponsiveness at the target areas is suggested. Hormonal investigations in these subjects showed that before puberty basal plasma testosterone and oestradiol were slightly but significantly elevated, whereas testosterone response to stimulation with human chorionic gonadotrophin was significantly diminished. In the pubertal subjects basal plasma testosterone, oestradiol, serum binding capacity of testosterone-oestradiol binding globulin and basal plasma LH were significantly elevated. These hormonal features in pubertal or post-pubertal male pseudohermaphrodites appear to be characteristic of androgen unresponsiveness. The presence in addition of elevated basal plasma testosterone and oestradiol in the pre-pubertal subjects suggest that some of these findings may be presented from early childhood.
Serum TeBG binding capacity was measured in 8 cord blood samples, and in peripheral venous blood from 39 male and 31 female infants aged from 1 day to 1 year. In cord blood, TeBG binding capacities were low (1.27 +/- 0.3 microgram/100 ml) with no sex difference. In male infants, TeBG binding capacities increased progressively from birth to 3 months, before decreasing to reach the normal prepubertal level at 6 months. Individual values ranged between 1.16 and 14.5 microgram/100 ml and were significantly correlated with plasma testosterone (r = 0.671, 95% confidence limits 0.440 to 0.818, p less than 0.005) and estradiol (r = 0.734, 95% confidence limits 0.121 to 0.942, p less than 0.01) levels. In female infants, individual values ranged between 1.17 and 14.5 microgram/100 ml, without correlation with age or plasma estradiol level. In male infants the data suggest a positive control ot TeGB binding capacity by estrogens, the negative effect of testosterone being delayed until after the 3rd month of age. In girls, the lack of correlation between TeBG and estradiol can probably be explained by rapid variations of plasma estradiol levels.
Plasma testosterone has been studied in 31 full-term male infants born with bilaterally undescended testes (14) or unilaterally undescended testis (17). From 10 to 89 days after birth, the post-natal testosterone rise was significantly lower in the 18 infants who remained cryptorchid at 4 months than in the 13 who underwent spontaneous testicular descensus and in the normal controls. Blunted post-natal Leydig cell secretion in cryptorchids may relate to a primary LH defect and could contribute to the impairment of both testicular descensus and maturation.
Endocrine evaluation with LH-RH (0.1 mg/m2) and chorionic gonadotrophin (HCG 3 X 1,500 I.U.) in 154 cryptorchid boys aged 1 month to 15 years showed a decrease of LH pituitary secretion and Leydig-cells response to HCG in prepubertal and early pubertal patients. These deficiencies were positively correlated. Partial and at least transient descent of cryptorchid testis or testes has been obtained in 87 of 265 patients treated with HCG (3 to 9 X 1,500 I.U.). Plasma testosterone after HCG 3 X 1,500 I.U. was less increased in patients whose cryptorchid testis or testes descended after 9 X 1,500 I.U. than in those whose testes remained undescended. These data suggest that a partial, early and transient deficiency of pituitary LH secretion may be responsible for testicular maldescent in part of cryptorchid boys.
The evolution of 50 hydatidiform moles was followed through repeated radioimmunoassays of choriogonadotropin (hCG), either in urine or plasma. In 37 cases a spontaneous regular decrease was observed, but it generally slowed down after the first week. In fact, only 30% of the total number of moles examined cleared up spontaneously within a month and 54% within 8 weeks. In 12 cases a diagnosis of retention of trophoblastic tissue was made: three times during the first month of evolution on the basis of a stagnation of the decreasing curve. In the 9 cases without radioimmunoassay of hCG between the 10th and 40th days after evacuation, the diagnosis was not made until after two months. The specific assay of hCG with an anti beta-hCG antiserum enables the resolution of diagnostic problems raised by the cross-reaction of hypopituitary LH when using the classic antiserum and particularly the differential diagnosis between the retention of trophoblastic tissue and a beginning pregnancy immediately following a mole, or a high level of LH after castration.