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  • 1
    ISSN: 1432-1076
    Keywords: Turner syndrome ; Glucose tolerance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Carbohydrate homeostasis was evaluated in 47 girls with Turner syndrome and in 25 “short normal” girls by means of an oral glucose tolerance test. Of the Turner patients 34% showed an impaired glucose tolerance vs 8% of the controls (X 2, P〈0.05). Mean glucose levels were significantly higher and mean insulin levels and insulinogenic index significantly lower in young Turner patients aged 5–12 years but not in adolescents aged 12–16 years. In both groups of patients, insulin levels and the insulinogenic index were significantly lower than those of the controls. In Turner patients between 12 and 16 years, carbohydrate tolerance improved and this may be explained by the lack of oestrogen release in these patients. Glucose tolerance was normal in patients with mosaicism. We conclude that (1) carbohydrate tolerance is defective in young children with Turner syndrome but improves in puberty due to the almost complete absence of oestrogen-progestogen secretion; (2) a difference in carbohydrate tolerance is evident depending on karyotype.
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  • 2
    ISSN: 1432-1076
    Keywords: DHEAS ; Hirsutism ; Adrenal hyperfunction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The case of a 17-year-old male with isolated hypersecretion of dehydroepiandrosterone sulphate (DHEAS) is described. Cushing syndrome, congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency, an androgen producing adrenal tumour, and elevated plasma DHEAS due to an increased renal threshold were excluded. Selective renal vein catheterization confirmed bilateral, isolated adrenal DHEAS hypersecretion. The dexamethasone suppression suggests a functional nature of this alteration. This condition has to be considered in the differential diagnosis of excessive andrenal androgen production in males, or of hirsutism in females.
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  • 3
    ISSN: 1432-1076
    Keywords: Coeliac disease ; Growth ; Final height
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied three groups of patient with coeliac disease: group 1=95 adult patients with gastro-intestinal symptoms diagnosed after reaching adult height, 41 of whom had had symptoms during childhood; group 2=23 adult patients with classic coeliac disease treated before or during puberty; group 3=11 coeliac children with short stature and no gastro-intestinal symptoms diagnosed and treated before or during puberty. We evaluated the adult height in groups 1 and 2 and the growth during the first years of diet in group 3. Our study leads us to the following conclusions. Dieting leads to a modest increase (on average not more than 3 cm) of the final height of coeliac patients. Subjects with gastro-intestinal symptoms who have been treated before adulthood reach a mean height similar to the normal population and have a slightly better adult height than non-treated subjects. This difference seems to exist only in men and this might be related to puberty evolving more rapidly in women receiving treatment. Subjects without symptoms during childhood reach a normal final height even without treatment. In our patients, early treatment seemed to have no great effect on adult height.
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  • 4
    ISSN: 1432-1076
    Keywords: Final height ; Acute lymphoblastic leukaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Survival of children with acute lymphoblastic leukaemia (ALL) has increased considerably in recent years and data on the spontaneous growth and final height of these children are conflicting. Therefore, we analysed the longitudinal growth and final height in 52 survivors (33 females, 19 males) of childhood ALL. These children were diagnosed and treated in a single institution, all remained in first remission and were submitted to cranial irradiation with either 2400 or 1800 cGy. None of the patients received testicular or spinal irradiation. Median age at diagnosis was 4.2 (range 1.3–9.6) years in the first group (2400 cGy) and 3.9 (0.8–10.5) years in the second (1800 cGy). Standing height was measured at diagnosis, at the end of treatment (median 3.1 years after diagnosis), 6, 12, 24 months after the end of treatment, and finally at the completion of growth. In girls a significant decrease of mean height standard deviation score (SDS) during treatment and a catch up in growth after the end of therapy was followed by a second period of reduced growth. Mean final height SDS was significantly lower than the value at diagnosis in both groups of girls, but only in males treated with 2400 cGy. Mean overall loss in height SDS from diagnosis to final heigth was higher in females (−1.24) than in males (−0.40) (P=0.009). Females 〈-4 years of age at diagnosis showed a higher loss in final height than females 〉4 years. An unchanged or improved final height was evident in 8 cases, the other 44 cases showed a final height decrease between −0.1 and −2 SDS in 36 and 〉-2 SDS in 8, 6 of whom were females 〈-4 years at diagnosis and only 1 a female 〉4 years. Only females treated at a younger age showed a final height lower than midparental height (−5.7±1.8 cm,P〈0.01), particularly those treated with 2400 cGy (−7.5±2.5 cm,P〈0.05). Menarche occurred earlier than in the normal population (11.5±1.2 years) with no differences between the two radiation dosages. Conclusion Females, notably young girls, treated for ALL show a greater decrease in the final height than treated males. Early sexual maturation may contribute to the decrease in the final height. A better growth pattern seems to be shown by patients irradiated with the lower dosage.
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  • 5
    ISSN: 1432-1076
    Keywords: Key words     Growth hormone ; Isolated growth hormone deficiency ; Growth hormone gene deletion ; Molecular diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes of the cluster: hGH-N, hCS-L, hCS-A and hGH-V. Both siblings produced high anti-GH antibody levels in response to exogenous GH therapy, followed by growth arrest a few months after starting replacement therapy. In patient 3 we detected a heterozygous deletion which involved three genes of the cluster (hCS-A, hGH-V, hCS-B) and left an intact hGH-N gene. Direct sequencing of hGH-N specific amplified fragments excluded the presence of any point mutations in exons and splicing regions. In patients 4 and 5 (sisters) our study did not demonstrate any gene deletions. Analysis of polymorphic restriction patterns in this family demonstrated that both sisters inherited the same alleles from the father but different alleles from the mother, suggesting that the defect was not linked to the hGH-N gene. These results confirm the difficulty of clinical identification of subjects with hGH-N deletion and underline the importance of DNA analysis in patients with absence of GH secretion and extreme growth retardation.
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies. The haplotype A3, Cw6, Bw47, BfF, DR7, which is exceptionally rare in the general population but which has been found in many other 21-OH-def patients from diverse geographical origins, was also found in one of the Italian patients. This and other HLA haplotype associations found among the Italian patients may represent mutations that have occurred on HLA haplotypes with genetic linkage disequilibrium or, alternatively, may represent mutations that have not yet had time to become randomly associated with different HLA complex determinants. The marked negative associations with B8 and DR3 could, however, result from an interaction between the gene products of the HLA complex and the 21-OH-def phenotype.
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  • 7
    ISSN: 1432-1076
    Keywords: Cryptorchidism ; LH-RH nasal-spray therapy ; LH-RH analogue nasal-spray therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sixty-seven prepubertal boys with either uni- or bilateral cryptorchidism were treated with LH-RH or its analogue Hoe 766. In all cases the undescended testes were located in the inguinal canal; none had retractile testes. A) 23 boys were given 200 μg LH-RH-6 times daily for 7 days B) 24 boys were given 500 μg LH-RH-2 times daily for 7 days C) 10 boys received 100 μg Hoe 766 every other day at 8 p.m. for a total of 8 insufflations D) 10 boys received 25 μg Hoe 766 every other day at 8 p.m. for a total of 8 insufflations. The treatment was performed with control by LH-RH tests and testing the pituitary reserve of gonadotropins. Plasma testosterone was measured by RIA. Of the 47 boys treated with synthetic LH-RH, 14 (29.8%) gave a positive response with descent of the testes into the scrotum (A: 21.7%; B: 37.5%). The basal values and the pituitary reserves of LH and FSH did not change after therapy. Plasma testosterone showed an increase in the whole group of patients. Hoe 766 caused an increase in the FSH in all boys, but the curve was significantly higher in group C. There was no difference in plasma testosterone level between group C and D. None of the ten patients in group C responded to the therapy. In three patients of group D (30%) both testes descended. The administration of hCG to those boys who had not responded to the synthetic LH-RH or its analogue therapy led to the descent of three testes in group A and B, of two testes in group C, and of three testes in group D. Treatment of crytorchidism by synthetic LH-RH or its analogue Hoe 766 for a short time can produce good results. The dosage of the drugs plays an important role in determining its effect. No change was found in gonadotropin secretion induced by synthetic LH-RH nasal spray therapy. The effect of intranasal administration of Hoe 766 is dose-dependent for FSH, but not for LH. When using synthetic LH-RH the best results were obtained by other authors with treatment of at least four weeks. The best results with synthetic or analogue LH-RH treatment were obtained in those subjects whose testes were located closer to the external ring. No side effects were observed either during or after the treatment.
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  • 8
    ISSN: 1432-1076
    Keywords: Somatomedin C ; Newborns
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Capillary blood samples on filter paper were assayed by means of an RIA method (Kit Nichols Institute USA) from 1096 newborns divided into full term, preterm and small-for-date infants. The somatomedin-C (Sm-C) mean value, which did not differ in the three groups, was 0.15±0.09 IU/ml. One hundred and ten (10%) showed Sm-C disc values ≤0.075 IU/ml, the minimum value measurable by our method. The day of life and birth weight had a significant influence on Sm-C levels. Gestational age did not have any significant effect. No significant interaction was found among the parameters considered. All the groups presented a progressive increase of Sm-C. Unlike preterm and small-for-date infants, in full term infants the latter increase seemed already to be evident from 5th day of life and reached higher levels from the 7th day of life onwards. In conclusion, Sm-C rates were reduced in the neonatal phase of life, but showed a tendency to rise later.
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  • 9
    ISSN: 1432-1076
    Keywords: Obese children ; Haemorheology ; Pibrinolysis ; Risk factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The haemorheologic condition was evaluated in 43 obese children and 35 controls. In 18 of the obese children and in 21 controls the euglobulin lysis time (ELT) was also studied. Blood viscosity at 94.5 and at 0.204 s-1 shear rates, plasma viscosity, fibrinogen and erythrocyte filtration time were significantly higher in obese than in control children. No significant differences were observed in haematocrit levels. Triglycerides, non-esterified fatty acids (NEFA), pre-β-lipoprotein and insulin rates were all significantly higher in obese than in control children. There were no significant differences in glycaemia and in haemoglobin A1 values. ELT, both basal and after stimulation with 1-deamino-8-d-arginine-vasopressin (DDAVP), was significantly higher in the obese than in control children. The haemorheologic disturbances together with alterations of the haemostatic balance and fibrinolysis may be an important risk factor for the development of vascular changes at paediatric age.
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  • 10
    ISSN: 1432-1076
    Keywords: Breast thermography ; Precocious puberty ; Thelarche
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Breast contact thermography was used to differentiate between premature thelarche and true precocious puberty. The technique was applied to 10 girls with premature thelarche, 12 with precocious puberty and 105 controls (Tanner B1-5). In controls, the scores attributed to the maturative thermographic signs correlated with breast development stages. In premature thelarche thermographic signs of vascularization were always absent, while in precocious puberty they were always observed, although in some cases unilaterally. The thermographic index (higher total score between the two breasts) ranged from 0 to 3 in girls with premature thelarche and from 4 to 10 in girls with precocious puberty. The thermographic pattern in premature thelarche was similar to that in prepubertal girls and did not progress in two girls who were repeatedly examined. We emphasize the useful role of contact thermography in evaluating pubertal breast development and in differentiating between premature thelarche and true precocious puberty.
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