[Pubertal maturation: growth and sexual development. Clinical aspects].
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Biomedical subjects
Publications and source records attributed to M Pierson.
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Twenty five of the 75 patients having been given human growth hormone in the Pediatric Nancy Endocrinological Division have reach final adult height. All have been treated the same way, 10 boys and 4 girls were diagnosed as isolated deficit, 7 boys and 4 girls as combined deficit. The physical, sexual, radiological, intellectual, professional and psychological characteristics have been defined either during the treatment follow-up or at a final interview. All results have been compared to the familial conditions if possible. Final adult statures are in the low range of the normal (-2 DS). The sexual development, normal for patients with isolated deficit, has not been achieved completely by regular protocol for patients with combined deficit. The intellectual and professional achievements are rather low but this has to be matched with below the normal familial conditions. Psychological determination is quite satisfactory but the personality is dominated by shyness and lack of responsibility. It is likely that an earlier onset of treatment and a better psychological guidance may lead to a better final results judged both on physical grounds but also on psychological and professional conditions.
The authors compare the effects of treatment with thyroid extracts and levothyroxine on T3, T4 and TSH levels in 2 groups of 8 hypothyroid infants. Serum TSH levels were lower in infants receiving thyroid extracts on and after the 15th day. The interest of a treatment associating T4 and T3 and of adapted doses of LT4 is discussed.
A study of electroencephalographic changes in six children during hemodialysis sessions was done in order to evaluate the effects of four different dialysis strategies: acetate or bicarbonate dialysates (sodium 142 mEq/1), acetate dialysate with high sodium concentration (148-150 mEq/1), and hemodiafiltration. There are basic activity alterations in all cases except during bicarbonate dialysis sessions. Alterations are, however, less pronounced during dialysis sessions with high sodium concentration dialysate. No strict concordance between clinical manifestations and electroencephalographic changes was observed. However, better tolerance of bicarbonate dialysis sessions is assessed with respect to clinical symptoms as well as electroencephalograms.
It has been published about 500 cases of caudal regression (sacral agenesis) of which 12 are undoubtly familial. In most of the non familial cases an aetiology is not demonstrable except the cases related to maternal diabetes and/or insulin treatment. A genetic control of the caudal regression is implicit in the familial transmission. Three sporadic new cases are reported and, at the occasion of the genetic counselling we analyse the 8 well reported genealogies. Among 133 subjects, 72 show some evidences of caudal regression. This is compatible with a pattern of autosomic dominant transmission. The analogy with the caudal regression anomaly of the mouse, in which the role of genes located closely to the histocompatibility system is demonstrated, evokes such a relation in the human with the major histocompatibility system. If true, this may be used as a genetic marker, especially for early antenatal diagnosis.
Genetic counselling gives the doctor a peculiar responsibility according to medical deontology and professional ethics rules. Originality and specificity of that kind of counselling requires intensive discussion of the geneticist's attitude in front of the diagnosis and specially prenatal diagnosis.
Ten cases of boys without testis are presented. Clinical and anatomical patterns of the disease are analysed. Total absence of testicular tissue is proven by the lack of plasma testosterone response to HCG stimulation and by cautious surgical investigation. Artificial virilization by prolonged androgen administration associated with silastic prothesis implantation is the only possibility of treatment. Anorchism does not represent a form of gonadal dysgenesis or sexual ambiguity since external genitalia are always non ambiguous, chromosomal constitution is XY without any structural anomaly of Y and H-Y histocompatibility antigen is present. Absence or destruction of the testis are caused by different mechanisms, according to the data obtained by individual case studies. The most likely is that foetal testes developped normally are destroyed in utero or in the perinatal period or even soon after birth. The most frequent mechanism with a genetic predisposition, seems to be bilateral pedicle twisting.
Two cases with chromosome 11 anomaly related to cancer are reported. The first one has a pericentric inversion (inv. p14 q12) with sympathoblastoma and Ondine's curse. The second one has a deletion (11p13) with aniridia and catalase deficiency but without Wilms tumor at two year of age. Retinoblastoma, nephroblastoma and sympathoblastoma may be related to genome modification. The mechanism of oncogenesis are discussed.
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A study on the relationship between a child's expected height and his parents' attained adult height was made from data obtained from 15,381 healthy children, age 4 to 18 years, and of French descent. The correlation between child's and parents' height was significant and important. Correlation coefficients increase with the ages of children. The theoretical height which a child might expect to attain in adulthood, based on his parents' heights, could be calculated by diagrams or program cards used in conjunction with a manual calculator. This information might be of importance for pediatric or medical care in school.
The authors report a 5 year-old child in whom lesions of the inferior metaphyses of the femur and superior metaphyses of the tibia were observed after successive pheochromocytomas. The aspect of the lesions, their improvement after surgical treatment of the tumors, the data in the literature and histologic findings suggest that a bone ischemia was induced by impaired microcirculation with infarction of the metaphyses.
The more frequent practise of X-ray examination shows that symphalangism may be involved by other synostosis. Maroteaux described in 1972 "multiplex synostosis disease". Seven personal cases (all female) in two families are described with particular problem of deafness and vertebral fusion. Dominant autosomic inheritance.
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Lipoprotein analyses were performed on serum samples from nine hemodialyzed children, 8 to 18 years old, and from nine pair-matched control children. Cholesterol was measured by gas-liquid chromatography in lipoprotein fractions separated by polyacrylamide gel electrophoresis. Total serum triglycerides and cholesterol levels were higher in the hemodialyzed group. Very low density lipoprotein cholesterol concentration was higher. The increase of low density lipoprotein cholesterol concentration and the decrease of high density lipoprotein cholesterol concentration were not significant, but the ratio of the low density lipoprotein cholesterol to the high density lipoprotein cholesterol was increased. These results outline the potential risk of premature atherosclerosis in uremic children on maintenance hemodialysis. In addition, lipoprotein cholesterol reference values are presented from a group of 113 healthy children.
Human serum contains an ultrafiltrable factor which stimulates the somatomedin activity measured by 35SO4 incorporation into pelvic cartilage of chick embryo, this ultrafiltrable factor activates native serum somatomedin or partially purified somatomedin. The molecular weight determined by fractionated ultrafiltration or chromatography on Biogel P2 is about 350-500 daltons.