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Franco Rigon,
Vincenzo De Sanctis,
Sergio Bernasconi,
Luigi Bianchin,
Gianni Bona,
Mauro Bozzola,
Fabio Buzi,
Giorgio Radetti, Luciano Tatò,
Giorgio Tonini,
Carlo De Sanctis,
Egle Perissinotto
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ABSTRACT: The most striking event in the whole process of female puberty is the onset of menstruation. To our knowledge, no large population-based studies have been performed on the topic of menstrual health among Italian adolescents in recent years.The aims of this study were to produce up-to-date information on the menstrual pattern of Italian girls attending secondary school, and to estimate the prevalence of menstrual cycle abnormalities in this population.
This was a cross-sectional study on a population-based sample of Italian adolescents aged 13-21 years attending secondary school. Only girls who had already started menstruating were requested to participate. Information was collected by means of a questionnaire that included items on the girls' demographic details, anthropometrics, smoking and drinking habits, use of contraceptive pills, and socioeconomic status. The questions on the girls' menstrual pattern concerned their age at menarche, duration of the most recent menstruation intervals (<21, 21-35, >35 days, variable), average days of bleeding (<4, 4-6, >6 days), and any menstrual problems and their frequency.
A total of 6,924 questionnaires were administered and 4,992 (71%) were returned. One hundred girls failed to report their date of birth, so 4,892 subjects were analyzed. The girls' mean age was 17.1 years (SD ±1.4); their mean age at menarche was 12.4 (±1.3) years, median 12.4 years (95%CI 12.3-12.5).In our sample population, 3.0% (95%CI 2.5%-3.4%) of the girls had menstruation intervals of less than 21 days, while it was more than 35 days in 3.4% (95%CI 2.9%-3.9%). About 9% of the girls (95%CI 7.7%-9.4%) said the length of their menstruation interval was currently irregular. Short bleeding periods (<4 days) were reported in 3.2% of the sample population (95%CI 2.7%-3.7%), long periods (>6 days) in 19% (95%CI 17.9%-20.1%). Menstruation-related abdominal pain was reported by about 56% of our sample. About 6.2% of the girls (95%CI 5.4%-7.0%) were suffering from dysmenorrhea.
In conclusion, to the best of our knowledge, this is one of the largest studies on menstrual patterns and menstrual disorders among Italian adolescent girls. Adolescent girls referring persistent oligomenorrhoea, in first two years from menarche, had a higher risk for developing a persistent menstrual irregularity. They had longer bleeding periods (>6 days) and this has practical implications because it makes these adolescents potentially more susceptible to iron deficiency anemia. Clinicians need to identify menstrual abnormalities as early as possible in order to minimize their possible consequences and sequelae, and to promote proper health information.We recommend that adolescents should be encouraged to chart their menstrual frequency and regularity prospectively from the menarche onwards.
Italian Journal of Pediatrics 08/2012; 38:38.
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ABSTRACT: Whereas no clear relationship has been observed between varicocelectomy and serum inhibin B levels in men, in adolescents comparison between inhibin B levels before and after varicocelectomy is lacking.
To evaluate the effect of varicocele surgical treatment on inhibin B levels in adolescents at the beginning of puberty compared to a group of healthy adolescents.
We studied 28 adolescents in Tanner 2 pubertal stage with a grade III left-sided varicocele (patients) compared to 13 age and pubertal stage-matched healthy adolescents (controls). All patients underwent blood tests to determine serum inhibin B levels before and 6 months after varicocelectomy by Palomo procedure. For comparison we investigated inhibin B levels in controls and repeated this test 6 months later. Testicular ultrasound was performed for patients only.
Baseline inhibin B concentrations of patients and controls were 109.90 ± 40.26 and 109.33 ± 38.34 pg/ml, respectively. No significant changes were observed in patients' inhibin B concentrations after varicocelectomy (116.00 ± 42.65 pg/ml), or in controls during the 6 months' follow-up (99.12 ± 30.09 pg/ml). Doppler examination after treatment shows a complete resolution of varicocele in all the patients without alterations in testicular parenchyma.
Varicocelectomy performed on adolescents at T2 pubertal stage might be useful to avoid alteration in inhibin B production and consequently in testicular function. Further studies are necessary to confirm the prognostic value of inhibin B levels and the benefit of early varicocelectomy in preserving the fertility of these adolescents.
Journal of endocrinological investigation 06/2011; 34(9):e265-7. · 1.57 Impact Factor
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ABSTRACT: In this prospective study, we analyzed 30 male infants with increased neonatal 17-hydroxyprogesterone (17OH-P) (patients) and for comparison 52 age-matched healthy babies (control subjects) with the aim of investigating the hypothalamic-pituitary-testis axis in the first 6 months of life. Although T, FSH, and LH levels were not significantly different in patients and control subjects, inhibin B was higher in patients than in control subjects. Therefore we suggest a clinical follow-up of these babies during childhood and puberty to verify the evolution of their condition.
Fertility and sterility 11/2010; 94(6):2350-2. · 3.97 Impact Factor
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ABSTRACT: To verify the effects of bisphosphonates (Bps) in combination with recombinant human GH (rGH) in pediatric osteogenesis imperfecta (OI) patients; we focused on possible improvement of bone mineral density (BMD), projected bone areas, growth velocity, and fractures risk.
A randomized controlled 1-year clinical trial on 30 prepubertal children (M:F=14:16) affected by OI (type I, IV, and III) being treated with neridronate.
Following an observational period of 12 months during ongoing neridronate treatment, the patients were randomly divided into two groups: 15 were treated for 12 months with rGH and neridronate (group Bp+rGH) and 15 continued neridronate alone (group Bp). We evaluated auxological parameters, number of fractures, bone age (BA), bone metabolic parameters, and bone mass measurements (at lumbar spine and radius by dual-energy X-ray absorptiometry).
The mean variation in percentage of BMD (Delta%BMD)--at lumbar spine (L2-L4), at distal and ultradistal radius--and the projected area of lumbar spine increased significantly in group Bp+rGH (P<0.05). Growth velocity was significantly higher during rGH treatment in group Bp+rGH versus group Bp and versus pretreatment (P<0.05), with no difference in increase in BA or fracture risk rate. Patients with quantitative (-qt) collagen synthesis defects had a higher, although not significant, response to rGH in terms of growth velocity and BMD.
In OI patients, the combined rGH-Bp treatment may give better results than Bp treatment alone, in terms of BMD, lumbar spine projected area and growth velocity, particularly in patients with quantitative defects.
European Journal of Endocrinology 09/2010; 163(3):479-87. · 3.42 Impact Factor
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Franco Rigon,
Luigi Bianchin,
Sergio Bernasconi,
Gianni Bona,
Mauro Bozzola,
Fabio Buzi,
Alessandro Cicognani,
Carlo De Sanctis,
Vincenzo De Sanctis,
Giorgio Radetti, Luciano Tatò,
Giorgio Tonini,
Egle Perissinotto
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ABSTRACT: To update the information on age at menarche in the Italian population and to verify the influence of genetic, nutritional, and socioeconomic factors on menarcheal age. Recent studies suggest that the magnitude of the secular trend toward an earlier age at menarche is slackening in industrialized countries.
This multicenter study was conducted on a large, population-based sample of Italian high school girls (n = 3,783), using a self-administered questionnaire. The questionnaire was used to gather information on the girls, including demography, anthropometry, menarcheal date, regularity of menses, behavioral habits, and physical activity. The questionnaire was also used to gather information on parents, including demography and mothers' and sisters' menarcheal ages. The median age at menarche and its 95% confidence interval were estimated by means of Kaplan-Meier survival analysis. To identify the independent predictive factors of age at menarche, multivariate mixed-effects models were applied.
The median age at menarche of the subjects was 12.4 years (95% confidence interval: 12.34-12.46). The girls had their first menses approximately one-quarter of a year (median-0.13) earlier than did their mothers (p < .0001). Among all variables, parents' birth area, body mass index, family size, and the mother's menarcheal age were significantly and independently associated with age at menarche.
This study confirmed the reduction in the trend toward earlier menarche in Italy. The results also confirmed that genetic and nutritional factors are strong markers for early menarche. Currently, socioeconomic factors do not seem to play as significant a role as in the past.
Journal of Adolescent Health 03/2010; 46(3):238-44. · 3.33 Impact Factor
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Franco Antoniazzi,
Elena Monti,
Rossella Gaudino,
Paolo Cavarzere,
Marco Zaffanello,
Milena Brugnara,
Silvia Perlini,
Evelina Maines,
Maria Chiara Gallo,
Sara Dal Corso,
Dario Zanon, Luciano Tatò
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ABSTRACT: Estrogens, growth hormones and IGFs are essential in the development and growth of the skeleton and for the maintenance of bone mass and density. Treatment of precocious puberty with gonadotropin-releasing hormone analogs (GnRHa), leads to a situation of hypoestrogenism by reducing sex-steroid levels, which, theoretically, may have a detrimental effect on bone mass during pubertal development. A reduction in bone mineral density during GnRHa treatment has been shown, but GnRHa treatment in patients with central precocious puberty does not seem to impair the achievement of normal peak bone mass at adult height. However, calcium supplementation is effective in improving bone densitometric levels and may promote better peak bone mass achievement.
Expert Review of Endocrinology & Metabolism 02/2010; 5(2):285-290.
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Anna Rapa,
Alice Monzani,
Stefania Moia,
Daniela Vivenza,
Simonetta Bellone,
Antonella Petri,
Francesca Teofoli,
Alessandra Cassio,
Graziano Cesaretti,
Andrea Corrias,
Vincenzo de Sanctis,
Salvatore Di Maio,
Cecilia Volta,
Malgorzata Wasniewska, Luciano Tatò,
Gianni Bona
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ABSTRACT: The aim of the study was to examine clinical characteristics, biochemical parameters, and TSH-R gene variations in children and adolescents with subclinical hypothyroidism (SH) in order to evaluate their pattern of distribution in SH.
We enrolled 88 patients, each having at least two TSH measurements above the upper limit of the reference range with normal free thyroid hormones and negative thyroid autoantibodies.
Clinical characteristics included height, weight, family history of thyroid diseases, thyroid volume, and echogenicity at ultrasonography. Biochemical parameters included TSH, free thyroid hormones, thyroid autoantibodies, and adjusted daily urinary iodine excretion (UIE). Genetic variations in the TSH-R gene were assessed.
The prevalence of overweight/obesity, positive family history of thyroid diseases, and thyroid hypoechogenicity was 28.4, 45.5, and 22.7%, respectively. Median TSH was higher in overweight/obese patients than in normal-weight ones (7.4 vs. 5.7 muIU/ml; P = 0.04) and in overweight/obese patients with hypoechogenicity than in those with normal ultrasound pattern (8.5 vs. 6.8 muIU/ml; P = 0.04). Adjusted daily UIE was lower in subjects without than in those with a positive family history of thyroid diseases (81 vs. 120 mug/d; P = 0.001). The prevalence of a positive family history of thyroid diseases was 1.9-fold higher in patients with nonsynonymous mutations in the TSH-R gene than in patients without any mutation (80 vs. 42%; P = 0.03). A novel mutation at position 1559 in exon 10 (W520X) was detected in one child.
Overweight/obesity, thyroid hypoechogenicity, and nonsynonymous mutations in the TSH-R gene are characterizing features of a large portion of SH children.
The Journal of clinical endocrinology and metabolism 06/2009; 94(7):2414-20. · 6.50 Impact Factor
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ABSTRACT: To assess the prevalence of polycystic ovary syndrome (PCOS) in a cohort of young women with previous idiopathic central precocious puberty (ICPP) at least 3 years after menarche, and to look for any predictive factors of PCOS at the time ICPP was diagnosed.
Longitudinal study.
Pediatrics unit, Verona, Italy.
Forty-six young women (18.1 +/- 3.0 years) who had been treated with GnRH analogues during childhood, observed at gynecologic age of 6.23 +/- 3.3 years.
Semistructured interview concerning cycles, physical exam, blood sampling, and transabdominal pelvic ultrasound.
Oligomenorrhea, LH, FSH, E(2), T, DHEAS, free T, delta4-androstenedione, 17-OHP, P, polycystic ovary morphology (PCOM).
Fifteen percent of the young women had oligomenorrhea, 28% clinical hyperandrogenism, 48% biochemical hyperandrogenism, and 37% PCOM. A total of 32% of the patients had PCOS according to the Rotterdam definition and 30% had PCOS according to the Androgen Exess Society. The prevalent phenotype of PCOS was characterized by clinical and/or biochemical hyperandrogenism and PCOM. We did not find any predictive factors for PCOS at the time ICPP was diagnosed.
Patients with ICCP are prone to developing PCOS. The prominent phenotype in this cohort was PCOM associated with clinical and/or biochemical hyperandrogenism. Further follow-ups of these young adult patients will clarify whether this phenotype persists and if it will have important long-term implications regarding increased risk of infertility or metabolic complications.
Fertility and sterility 02/2009; 93(4):1185-91. · 3.97 Impact Factor
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ABSTRACT: To establish the role of new TSH receptor (TSHr) variants (P27T, E34 K, R46P, D403N, W488R and M527T) recently identified in children with congenital hypothyroidism (CH) or subclinical hypothyroidism (SH) with a thyroid gland of normal size.
TSHr variants were obtained by mutagenesis. Wild-type (wt) and TSHr mutants were expressed in COS cells and cAMP assay, (125)I-TSH binding and microchip flow cytometry analyses were performed.
D403N and M527T mutants showed a lower cAMP response to bovine TSH (bTSH) with respect to the wtTSHr. R46P and W488R mutants did not show any response to bTSH stimulation in terms of cAMP production. The E34 K mutant showed a significantly lower cAMP response to stimulation with bTSH, while P27T had a lower cAMP response only to the highest dose of bTSH used. P27T, E34 K, D403N and M527T mutants showed a lower TSH binding capacity with respect to the wtTSHr. R46P and W488R mutants did not show any TSH binding.
E34 K, D403N, M527T, R46P and W488R TSHr variants seem to cause a functional abnormality of the receptor which is responsible for the observed phenotype. The P27T TSHr variant does not seem to play a functional role in the pathogenesis of CH and should be considered as a polymorphism.
Clinical Endocrinology 09/2008; 70(2):335-8. · 3.17 Impact Factor
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ABSTRACT: To investigate the prepubertal serum inhibin B levels in monorchid boys with compensatory testicular hypertrophy (CTH) and in surgically treated cryptorchid boys with normal testicular volume.
Prospective study.
Pediatric Division, University of Verona, Italy.
Thirty-two prepubertal boys: 11 monorchids with CTH and 21 cryptorchids. For comparison we analyzed 15 healthy boys.
All patients underwent a GnRH agonist test. Inhibin B measurement was performed at basal time.
There was a significant difference in mean testicular volume between monorchid and cryptorchid or healthy children, with boys with CTH evidencing larger testicle volume. There was no significant difference in inhibin B levels between boys with CTH and cryptorchid, but the levels were significantly lower in both groups than in the control group. Boys with CTH had significantly higher serum levels of basal FSH than children with cryptorchid. The FSH peak response to GnRH agonist stimulation was significantly higher in boys with CTH than in those with cryptorchid.
Monorchid infants with CTH showed low inhibin B and high FSH levels. Our finding may confirm the hypothesis that CTH is unable to prevent testicular insufficiency in adulthood. We suggest an early hormonal evaluation of boys with CTH at puberty, together with early sperm analysis.
Fertility and sterility 02/2008; 90(6):2217-21. · 3.97 Impact Factor
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ABSTRACT: To assess the association between adiposity indexes (body mass index [BMI], fat mass, adipocyte size) and circulating inflammation markers with known metabolic relevance or insulin sensitivity in overweight/obese children.
Twenty-eight children (males/females: 13/15) with different degrees of overweight (BMI z-score: 1.64-3.1; fat mass: 14.1-49.8 kg) were studied. BMI, body composition (dual-energy x-ray absorptiometry scanning), subcutaneous adipocyte diameter (needle biopsy of subcutaneous abdominal fat), blood tumor necrosis factor-alpha and interleukin-6 concentrations and insulin sensitivity (frequently sampled intravenous glucose tolerance test) were assessed.
Adipocyte diameter, more than BMI and fat mass, was significantly associated with interleukin-6 (r = 0.62, P < .001) and tumor necrosis factor-alpha (r = 0.61, P < .001). Moreover adipocyte size was associated with insulin sensitivity (R2 = 0.15, F = 4.69, P = .04) independently from fat mass.
Adipocyte size is a factor linked to both inflammation and insulin resistance in overweight/obese children. This is similar to the findings in adults and lends support to the tenet that the earlier obesity ensues, the more severe the biologic consequences may be.
The Journal of pediatrics 12/2007; 151(6):647-52. · 4.02 Impact Factor
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ABSTRACT: After a couple of decades from the institution of nationwide congenital hypothyroidism (CH) newborn screening program, the first generation properly treated is now displaying normal reproductive rate and the causative molecular defects are spreading from one generation to the next. In the present study we propose a method of detection of mutations in the thyrotropin receptor (TSHR) and in the paired box 8 (PAX8) genes that have been proved to be responsible for some forms of CH. The method, carried out by means of denaturing high-performance liquid chromatography (DHPLC) followed by direct sequencing, takes advantage of the CH newborn screening procedure, because genomic DNA for the analysis is extracted from the same blood spot collected for recall confirmation. Among 16 hypothyroid newborns with thyroid hypoplasia born between January 1999 and April 2005 in northeastern Italy, three heterozygous causative mutations in the TSHR gene were evidenced, whereas the analysis of the PAX8 gene revealed an unknown heterozygous substitution that could interfere with the start of transcription.
Genetic Testing 02/2007; 11(4):387-90. · 1.17 Impact Factor
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ABSTRACT: Decreased levels of ghrelin have been measured in growing children during puberty. No data are available for girls with central precocious puberty (CPP).
To explore ghrelin changes before, during, and after GnRH analog treatment in girls with CPP.
A sample of 20 Caucasian girls (8.08 +/- 0.65 years of age) with CPP was recruited. Height and weight, bone age, LH, FSH, 17beta estradiol (E(2)), and ghrelin were measured before starting treatment with GnRH analog, 18 months after therapy began and again 6 months after therapy discontinuation.
LH and E(2) serum levels decreased significantly during treatment (2.45 +/- 2.03 vs 0.67 +/- 0.49 UI/l, P < 0.01 and 28.17 +/- 9.7 vs 15 pmol/l, P < 0.01 respectively), returning to baseline levels after the discontinuation of therapy (4.75 +/- 1.66 UI/l and 29.23 +/- 6.99 pmol/l respectively). LH peaked following LHRH stimulation significantly (P < 0.01) decreased during treatment (24.45 +/- 14.17 vs 1.3 +/- 0.18 UI/l) and then increased after therapy discontinuation (12.58 +/- 6.09, P < 0.01). Ghrelin decreased significantly (P < 0.05) during treatment (1849 +/- 322 vs 1207 +/- 637 pg/ml), and increased, though not significantly (P = 0.09) after therapy withdrawal (1567 +/- 629 pg/ml).
Contrary to what is expected in physiologic puberty, where ghrelin is progressively reduced, the prepubertal hormone milieau induced by GnRHa treatment in patients suffering from central precocious puberty (CPP) did not promote an increase in ghrelin circulating levels. Therefore, in CPP, ghrelin secretion seems to be independent from pubertal development per se. Concomitant estrogen suppression during treatment may play a potential role in the regulation of ghrelin secretion in these girls.
European Journal of Endocrinology 01/2007; 156(1):99-103. · 3.42 Impact Factor
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ABSTRACT: Osteogenesis Imperfecta is a genetic disorder of increased bone fragility and low bone mass. Most cases are caused by a mutation in one of the two genes coding for the type I collagen protein. The correct clinical diagnosis of OI can be difficult sometimes, because of the wide phenotypic range. Therefore collagen I genes mutation identification can be helpful. We screened 23 patients by direct sequencing of the exons encoding the collagen protein. We identified 18 different mutations, while 5 cases were negative because of an uncertain clinical diagnosis or an atypical form of OI not related to collagen I genes. The current medical and pharmaceutical treatments are only symptomatic and do not alter the course of collagen mutations. Cells and gene therapies as potential treatments for OI have therefore to be actively investigated.
Pediatric endocrinology reviews: PER 10/2006; 4(1):40-6.
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ABSTRACT: To evaluate prospectively the efficacy of bisphosphonate treatment in infants with severe forms of osteogenesis imperfecta (OI).
Of 10 children (6 females) with OI type III, 5 (group A) started treatment (2 mg/kg neridronate administered intravenously for 2 consecutive days, every 3 months) just after diagnosis at birth and 5 (group B) after 6 months. Ten untreated children, matched for sex, age, and clinical severity of OI, constituted a historical control group (group C). We measured weight, length, and number of fractures every 3 months and serum and urinary levels of calcium, phosphorus, creatinine, serum alkaline phosphatase, 25-hydroxyvitamin D, insulin-like growth factor I, parathyroid hormone, and osteocalcin, urinary type I collagen N-terminal telopeptide, and lateral radiography of vertebral column every 6 months.
Group A had better growth and a lower incidence of fractures than groups B and C in the first 6 months of treatment. In the second 6 months, both groups A and B had lower fracture rates than group C. After 12 months of therapy, osteocalcin and insulin-like growth factor I levels significantly increased only in group A. The urinary Ca/Cr ratio and N-terminal telopeptide/Cr ratio significantly declined only in treated patients. Vertebral body area and the structure of vertebral bodies improved in all treated patients, but especially in group A.
Cyclical neridronate treatment, started just after diagnosis at birth, had positive effects on growth and fracture rate.
Journal of Pediatrics 09/2006; 149(2):174-9. · 4.11 Impact Factor
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ABSTRACT: To assess the prevalence of overweight and obesity in 2- to 6-year-old Italian children and to compare the prevalence between the north and the south of the country.
This was a cross-sectional study of 2150 subjects (M/F: 1137/1013), 5.36 +/- 0.83 years of age. The sampling areas were Verona (north Italy) and Messina (south Italy). We used definitions of overweight and obesity using BMI values, with cut-off values proposed by the International Obesity Task Force.
The prevalence of overweight was 16.6% (males: 13.9%, females: 19.6%), and it was higher in the south (males: 17.8%, females: 22.4%) than in the north (males: 11.3%, females: 17.9%). The prevalence of obesity was 8.0% (males: 8.3%, females: 7.7%), and it was higher in the south (males: 12.3%, females: 10.7%) than in the north (males: 5.7%, females: 5.8%). Using the Centers for Disease Control reference charts, the prevalence of overweight and obesity of Italian children was close to that reported in children living in the United States (32% vs. 32.7%, respectively).
The prevalence of overweight and obesity in young Italian children is very high, and it is rapidly growing. In the south of the country, the prevalence is higher than in the north.
Obesity 06/2006; 14(5):765-9. · 4.28 Impact Factor
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ABSTRACT: To explore the changes of ghrelin circulating levels induced by a mixed meal and their relationship with postprandial substrate oxidation rates in overweight and obese children with different levels of insulin sensitivity.
A group of ten boys (age 9-12 years) with different levels of overweight (standard deviation score of body mass index: 1.6-3.2) was recruited. Body composition was measured by dual-energy X-ray absorptiometry. Insulin sensitivity was assessed by a frequently sampled i.v. glucose tolerance test. Pre-prandial and postprandial (3 h) substrate oxidation was measured by indirect calorimetry. The energy content of the test meal (16% protein, 36% carbohydrate and 48% fat) was 40% of pre-prandial energy expenditure (kJ/day).
Pre-prandial serum concentration of total ghrelin was 701.4+/-66.9 pg/ml (S.E.M.). The test meal induced a rapid decrease in ghrelin levels and maximal decrease was 27.3+/-2.7% below baseline. Meal intake induced a progressive increase of the carbohydrate oxidation rate for 45 min after food ingestion, followed by a slow decrease without returning to pre-prandial values. Postprandial cumulative carbohydrate oxidation was 16.9+/-0.8 g/3 h. Insulin sensitivity and postprandial maximal decrease of ghrelin concentration showed a significant correlation (r = 0.803, P < 0.01). Moreover, the postprandial carbohydrate oxidation rate correlated with the area under the curve for both insulin (r = 0.673, P < 0.03) and ghrelin (r = -0.661, P < 0.04).
A relevant association between postprandial insulin-mediated glucose metabolism and ghrelin secretion in children with different levels of overweight was found. It is possible that the maintenance of an adequate level of insulin sensitivity and glucose oxidation may affect appetite regulation by favoring a more efficient postprandial ghrelin reduction.
European Journal of Endocrinology 01/2006; 154(1):61-8. · 3.42 Impact Factor
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ABSTRACT: TSH resistance ranges from overt nonautoimmune hypothyroidism to subclinical hypothyroidism, defined as mild hyperthyrotrophinaemia but a euthyroid state clinically. To date, 23 inactivating mutations of the TSH receptor (TSHR) gene have been proven responsible for the clinical condition, but an absence of mutations in the TSHR gene has been reported for several cases of TSH resistance as well. In this paper, we aimed to investigate the actual role of the TSHR gene in the development of both subclinical and congenital hypothyroidism.
14 hypothyroid newborns, 116 subclinical hypothyroid subjects and 120 healthy controls.
Through denaturing high performance liquid chromatography (DHPLC), we screened for mutations the TSHR gene (the proximal promoter, the exons and their flanking regions), and evaluated the association between serum TSH and functionally characterized alleles identified.
In the hypothyroid patients, one patient was heterozygous for a new missense variation, E34K, whereas two others patients were either homozygous or heterozygous for the P162A substitution. In the subclinical hypothyroid subjects, we detected only heterozygous substitutions: they are mostly new (123-124insTGCA, P27T, R46P, 555-561delTATTCTT, D403N, W488R, M527T), while six correspond to already published mutations (P162A, R109Q, L252P and three C41S). We only focused on those mutations that had been functionally characterized in vitro, and in whom serum TSH was available from family members.
A single grossly mutated allele (such as C41S or 555-561del) invariably leads to a condition of subclinical hypothyroidism, whereas in case of heterozygous carriers of mutations partially affecting the receptor function (such as P162A or L252P), a remarkable variable expressivity was detected among individuals belonging to different generations.
Clinical Endocrinology 09/2005; 63(2):146-51. · 3.17 Impact Factor
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Acta Paediatrica 08/2005; 94(7):986-8. · 2.07 Impact Factor
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ABSTRACT: During growth, the human body increases in size and changes its proportions of various components due to hormone mediators. Growth is a complex, biological process regulated by multiple factors. These factors include genetics, nutritional intake, physical activity, age, gender and endocrine balance, all of which influence a child's body composition during the growth years. Quantifying the main components is integral to the study of growth, as the assessment of human physical characteristics is important both in the anthropological and medical fields. It is important to have the possibility to control the growth process and to predict adult status in order to reduce the risk factors of various diseases. CONCLUSION: This paper examines issues in the measurements of paediatric body composition, describing traditional and new tools in this field.
Acta paediatrica (Oslo, Norway: 1992). Supplement 07/2005; 94(448):8-13.
