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J C Job

Publications and source records attributed to J C Job.

At least 19 recordsLinked to original sources
PubMed1992

Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study.

In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and an unaffected brother's DNA, we analyzed the two androgen receptor gene polymorphisms described, the HindIII and the exon 1 CAG repeat polymorphisms, in order to distinguish the two maternal X chromosomes, and to detect carriers of AIS. We did not find any large deletion among the 52 patients. We observed a heterozygous mother in 3 of 14 families studied with the HindIII polymorphism, and in 12 of 25 families using the exon 1 CAG repeat polymorphism. This study suggests that in AIS, abnormalities in androgen receptor response could be related to point mutations or microdeletions rather than to gross structural alterations of the androgen receptor gene. Furthermore, unless the point mutation has been described, exon 1 and HindIII polymorphism studies would enable the identification of carriers in 50% of families, and the prenatal diagnosis of AIS.

Androgens↗
PubMed1992

Epidemiologic survey of patients treated with growth hormone in France in the period 1959-1990: preliminary results.

Because the delivery of growth hormone (GH) was centralized from 1977 in France, it has been possible to conduct, during the second half of 1990, a nationwide survey of the health status of patients treated with GH from the year 1959. A questionnaire regarding the 5,546 patients recorded for the period 1959-1990 was sent to the prescribers or the patients. 5,418 more or less completely documented reports were obtained. The mean age of the patients at the onset of GH treatment was 11.0 +/- 4.1 years. 1,937 of them had at this time some important disease associated with GH deficiency. The mean duration of treatment was 3.99 +/- 3.05 years. 3,446 patients were still under follow-up. Very recent information (1990-1991) was given for 82.7% of patients, less recent data (1985-1989) for 13.4%. For 3.9%, no data beyond 1985 were obtained. 77 patients had died, 38 from neoplastic disease (mainly recurrence of a primary malignancy), 10 from accident, 3 by suicide, 7 with neurological disease [only 1 case of Creutzfeldt-Jakob disease (CJD) was reported at the time of the survey], the others from various causes. No abnormal frequency of posttreatment leukemia, lymphoma, malignancies, hip diseases, glucose intolerance or other disease focusing attention, was found in the survey. From the time when this survey was completed (December 1990) to that of this report (May 1992), other cases of CJD have been reported in France: 3 ascertained, 7 clinically resembling but not yet certain. These 10 patients were treated for complete GH deficiency, 6 of congenital or neonatal cause and 4 after neurosurgery.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1979

Longitudinal study of plasma testosterone in male pseudohermaphrodites during early infancy.

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.

Age Factors↗
PubMed1979

[Insufficiency of penis development (micropenis). Etiological data in a series of 25 cases].

The diagnosis of micropenis was made in 25 boys aged 1 month to 16 years. This abnormality was associated with hypothalamic-pituitary deficiency in 12 boys (hypogonadotrophic hypogonadism, hypopituitary growth failure, Prader-Willi syndrome), with testicular disorders in 5 boys (anorchia, testicular dysgenesis). In the other 8 the micropenis was an isolated finding but the testicular response to HCG and the LH response to LHRH was significantly reduced (p less than 0.005). The results suggest there may be isolated gonadotrophia deficiency. The variety of conditions that are responsible for micropenis suggest that testosterone deficiency is an important causative factor. HGH may also be important as the penis may be small in HGH deficiency and growth occurs with treatment.

Adolescent↗
PubMed1979

[Acanthosis nigricans, hirsutism and insulin-resistant diabetes].

Three girls, two of them being monozygotic twins, are affected with acanthosis nigricans and hirsutism, which worsened at the time of their puberty. The first one has primary amenorrhea and the twins complain of spaniomenorrhea. Furthermore, laboratory data concluded to diabetes, hyperinsulinism and resistance to insulin. This rare association of syndromes is not accidental but its significance remains unknown.

Acanthosis Nigricans↗
PubMed1979

[Binding capacity of testosterone estradiol binding globulin (TeBG) in normal children and in children with endocrine pathology].

The binding capacity of plasma TeBG was measured by polyacrylamide gel electrophoresis. In normal prepubertal children the values are identical in the two sexes boys (6.23 +/- 1.72 microgram/dl); girls (6.21 +/- 1.93 microgram/dl). In boys puberty induces an immediate and highly significant (p less than 0.001) drop in TeBG (1.79 +/- 0.75 microgram/dl) while it remains unchanged in girls (5.34 +/- 0.92 microgram/dl). In newborn males there is a physiological rise in plasma testosterone in the first months of life with a parallel rise in TeBG. In boys with precocious puberty the drop in TeBG is delayed in comparison to the rise in plasma testosterone. The pubertal drop of TeBG is delayed and incomplete in boys with male pseudohermaphroditism. The data indicates that the measurement of TeBG binding capacity can be used as an indirect method to evaluate the peripheral effect of testosterone. The lack of effect of HCG on TeBG means that this test is of no value as a functional assessment of prepubertal subjects.

Adolescent↗
PubMed1978

Endocrine studies in male pseudohermaphroditism in childhood and adolescence.

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.

Adolescent↗
PubMed1978

Hypothalamo-pituitary-gonadal function in male central precocious puberty.

Eleven boys aged 1-10 years with central precocious puberty were studied. According to the pubertal development six were classified as P2, one as P3 and four as P5. In all cases plasma testosterone levels were definitely elevated (1.7-5.8 ng/ml) when compared with pre-pubertal controls. Peak values after HCG (3 X 1500 units) in four of the boys were in the high adult range. The binding capacity of serum testosterone oestradiol binding globuline (TeBG) ranged between 0.5 and 7.30 microgram/dl. Basal plasma levels of LH and FSH were respectively 2.06 +/- 0.64 and 1.2 +/- 0.25 miu/ml, and peak levels after LHRH (0.1 mg/m2) 13.9 +/- 3.7 and 2.6 +/- 0.43 miu/ml respectively. The data demonstrated a significant increase of plasma testosterone and post LHRH LH peak levels in boys with central precocious puberty when compared with pre-pubertal controls. The patients at stage P2 exhibited high levels of plasma testosterone contrasting with the degree of pubertal maturation, high values of TeBG and low response to LHRH which were in the pre-pubertal range. These findings suggest that the testicular sensitivity to LH increases early in boys with central precocious puberty, while the testosterone responsiveness, both at peripheral and hypothalamic levels, is delayed.

Child↗
PubMed1978

Variations of serum testosterone estradiol binding globulin (TeBG) binding capacity in infants during the first year of life.

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.

Age Factors↗
PubMed1978

Correlative study of radioreceptor assay and radioimmunoassay of serum growth hormone in children. II: Primary, genetic and intra-uterine growth retardation.

Growth hormone (GH) was measured by radioreceptorassay (RRA) and radioimmunoassay (RIA) in the sera of 24 children with idiopathic primary growth retardation (PGR), 15 with genetic short stature (GSS) and 11 with intra-uterine growth retardation (IUGR), and compared to results obtained in normal children. The average RRA/RIA ratio was close to normal in PGR (1.02 +/- 0.05) and in IUGR (1.06 +/- 0.07), and slightly though not significantly lower in GSS (0.86 +/- 0.06). Some variability in RRA/RIA ratio was found in individual patients of each group, and some sera gave a non-parallel displacement of the tracer when compared to the standard curve. But no genetic difference of RRA-assayable GH was found between the three groups studied and normal children.

Adolescent↗
PubMed1978

Reduced post-natal rise of testosterone in plasma of cryptorchid infants.

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.

Cryptorchidism↗
PubMed1978

[Etiology and associations of pituitary dwarfism. Study of a series of 135 cases].

Among 135 consecutive cases of hypopituitary dwarfism, 42 related to detectable intracranial tumour or defect. In 13 cases the tumour had been previously operated and/or irradiated. In 29 others the defect was suggested by neurological abnormalities or headache, skull radiographs, ocular examination or by associated post-hypophyseal deficiency and was demonstrated by pneumoencephalography. When none of these associated abnormalities was found, pneumoencephalography failed to demonstrate any intracranial lesion. Among the 93 so-called idiopathic cases there was a large majority of males (60/93) with a history of birth difficulties (34/60) and especially of breech delivery (23/60). TSH, FSH/LH and ACTH deficiencies were associated to GH deficiency in 81% of patients with detectable intracranial lesions, 57% of male and 39% of female idiopathic cases. The number of patients with idiopathic isolated GH deficiency was similar in boys and girls, suggesting in them the hypothesis of a recessive autosomic genetic defect in spite of the scarcity of familial cases. Peculiar clinical associations may contribute to the diagnosis.

Adolescent↗
PubMed1978

[Endocrine data in cryptorchism].

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.

Adolescent↗
PubMed1978

[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].

A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.

Abnormalities, Multiple↗
PubMed1978

[Measurements of the sella turcica in idiopathic hypophyseal nanism].

The size of the sella turcica was measured in 66 cases of so-called idiopathic hypopituitary dwarfism, and compared to Silverman's standards. In 55 % of patients the sella was abnormally small for age, and in 45 % abnormally small for height. No significant differences were found from male to female patients nor from isolated somatotropic deficiencies to multiple tropic hormones deficiencies.

Adolescent↗