A Cicognani

University of Bologna, Bolonia, Emilia-Romagna, Italy

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Publications (238)604.48 Total impact

  • [Show abstract] [Hide abstract] ABSTRACT: The aim of this study is to extend to pre-school ages the Italian Society for Pediatric Endocrinology and Diabetes (SIEDP)-2002 growth charts for height, weight and body mass index (BMI), to obtain charts (SIEDP-2006) that apply to the Italian population from 2 to 20 yr of age, taken as a whole, or separately in two geographical areas (Central-North Italy and South Italy). The charts are based on a sample of about 70,000 subjects attending infant, primary and secondary schools, between 1994 and 2004. The distribution of the sample by gender, age and geographic area was roughly similar to that of Italian school population in the last decade of the 20th century. Height and weight were measured using portable Harpenden stadiometers and properly calibrated scales, respectively. SIEDP-2006 references are presented both as centiles and as LMS curves for the calculation of SD scores, and include the extra-centiles for overweight and obesity. Large differences in BMI growth pattern emerged between the SIEDP-2006, 2000 CDC and UK90 references: in Italy, BMI is higher and its distribution is more skewed during childhood and adolescence. At the end of growth, median values of the three references are similar, but the 97th centile of 2000 CDC charts is much higher and increases more steeply than that of SIEDP-2006 charts, which on the contrary reach a plateau. SIEDP-2006 references intend to supply pediatricians with a tool that avoids the use of charts that are outdated or that refer to other populations, and thus should be suitable for adequately monitoring the growth of their patients.
    No preview · Article · Jul 2014 · Journal of endocrinological investigation
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    [Show abstract] [Hide abstract] ABSTRACT: STUDY OBJECTIVES: We analyzed the potential predictive factors for precocious puberty, observed in some cases of childhood narcolepsy with cataplexy (NC) and for obesity, a much more common feature of NC, through a systematic assessment of pubertal staging, body mass index (BMI), and metabolic/endocrine biochemical analyses. DESIGN: Cross-sectional on consecutive recruitment. SETTING: Hospital sleep center and pediatric unit. PATIENTS: Forty-three children and adolescents with NC versus 52 age-matched obese children as controls. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Patients underwent clinical interview, polysomnographic recordings, cerebrospinal fluid hypocretin-1 measurement, and human leukocyte antigen typing. Height, weight, arterial blood pressure, and Tanner pubertal stage were evaluated. Plasma lipid and glucose profiles were analyzed. When an altered pubertal development was clinically suspected, plasma concentrations of hypothalamic-pituitary-gonadal axis hormones were determined. Children with NC showed a high prevalence of overweight/obesity (74%) and a higher occurrence of precocious puberty (17%) than obese controls (1.9%). Isolated signs of accelerated pubertal development (thelarche, pubic hair, advanced bone age) were also present (41%). Precocious puberty was significantly predicted by a younger age at first NC symptom onset but not by overweight/obesity or other factors. In addition, overweight/obesity was predicted by younger age at diagnosis; additional predictors were found for overweight/obesity (short disease duration, younger age at weight gain and lower high-density lipoprotein cholesterol), which did not include precocious puberty. NC symptoms, pubertal signs appearance, and body weight gain developed in close temporal sequence. CONCLUSIONS: NC occurring during prepubertal age is frequently accompanied by precocious puberty and overweight/obesity, suggesting an extended hypothalamic dysfunction. The severity of these comorbidities and the potential related risks require a multidiagnostic approach and a tailored therapeutic management. CITATION: Poli F; Pizza F; Mignot E; Ferri R; Pagotto U; Taheri S; Finotti E; Bernardi F; Pirazzoli P; Cicognani A; Balsamo A; Nobili L; Bruni O; Plazzi G. High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy. SLEEP 2013;36(2):175-181.
    Full-text · Article · Feb 2013 · Sleep
  • [Show abstract] [Hide abstract] ABSTRACT: Corticosteroid treatment is the standard of care in Duchenne muscular dystrophy (DMD), but the optimal age to initiate treatment and dosage pattern remain a matter of discussion. We performed a long-term study of alternate-day corticosteroids in five 2- to 4-year-old DMD patients. The primary outcome measure was prolongation of the ability to walk. One patient lost ambulation at age 10. Four patients, aged 16 to 18 were fully ambulant, and 3 of them could still climb stairs. Respiratory function was moderately reduced in 2. Left ventricular ejection fraction was > 45%. Short stature and delayed puberty were the most relevant side effects. Although the negative impact of corticosteroid treatment on growth rate remained their major concern, parents and patients stated that they preferred corticosteroid therapy. Long-term corticosteroid treatment is effective in prolonging function but not in recovering lost function, and its early use seems appropriate.
    No preview · Article · Jun 2012 · Muscle & Nerve
  • [Show abstract] [Hide abstract] ABSTRACT: Congenital hypopituitarism results from a deficiency of any or all of the hormones secreted by the anterior pituitary gland (adreno-corticotropic hormone [ACTH]; growth hormone [GH]; thyroid-stimulating hormone [TSH]; luteinizing hormone [LH]; follicle stimulating hormone [FSH]; prolactin [PRL]) or by the posterior pituitary gland (antidiuretic hormone [ADH]). It is uncommon. The annual incidence ranges from 1 to 42 new cases per million and a prevalence of 300– 455 cases per million [1].
    No preview · Chapter · Jan 2012
  • [Show abstract] [Hide abstract] ABSTRACT: It is rare to be unable at birth to differentiate a male from a female newborn because of the presence of ambiguous genitalia, but abnormalities of the external genitalia that need further investigation may occur in about 1 in 4000 births [1]. Antenatal ultrasound scanning has improved our ability to predict these conditions.
    No preview · Chapter · Jan 2012
  • Piero Pirazzoli · Alessandro Cicognani
    [Show abstract] [Hide abstract] ABSTRACT: L’ipertiroidismo è una malattia rara che si riscontra approssimativamente nello 0,02% dei bambini con un picco di incidenza tra gli 11 e i 15 anni [1]. Nel soggetto prepubere con meno di 4 anni la severità della sintomatologia è molto elevata. Come avviene per tutta la patologia tiroidea, è più frequente nelle femmine (6–8/1) che nei maschi. Il termine “ipertiroidismo” definisce l’iperproduzione di ormone da parte della ghiandola tiroidea, quello di “tireotossicosi” indica gli effetti metabolici a livello tissutale legati all’incremento dei livelli ormonali tiroidei (qualunque sia la loro origine).
    No preview · Chapter · Jan 2012
  • [Show abstract] [Hide abstract] ABSTRACT: Background: Increased artery intima-media thickness (IMT) was found in adults with classical congenital adrenal hyperplasia (CAH). No data are available in patients with non-classical (NC) CAH. Aims: To evaluate IMT in adolescents with classical and NC CAH and to compare the results with those recorded in a control population. Patients and Methods: 18 adolescents with either classical (Subgroup A1) or NC CAH (Subgroup A2) were compared with 16 controls (Group B). All subjects underwent IMT ultrasonography measurement at different sites; results were correlated with clinical, metabolic and insulin resistance (IR) data. Results: When compared with Group B, both subgroups exhibited higher IMT values at all sites. No differences were found between classical and NC CAH. Univariate analysis of factors impacting on IMT of CAH patients demonstrated that: a) abdominal aorta (AA) IMT was positively correlated with cumulative glucocorticoid doses, triglyceride serum levels and diastolic blood pressure SDS and negatively with androstenendione and ACTH levels; b) common carotid (CC) IMT was positively associated with triglycerides and triglyceride / HDL ratio. At multiple regression analysis the independent positive predictors of AA and CC IMTs were respectively triglyceride levels and triglyceride / HDL ratio. Conclusions: : a) even adolescents with NC CAH and not only those with classical form may be at higher risk of artery alterations; b) this risk is not necessarily associated with either obesity or waist/height ratio or dyslipidemia; c) an important role in the pathogenesis of artery alterations in CAH may be played by intermittent iatrogenic hypercortisolism and secondary IR.
    No preview · Article · Dec 2011 · Journal of endocrinological investigation
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    [Show abstract] [Hide abstract] ABSTRACT: Sensor-augmented continuous subcutaneous insulin infusion (CSII) therapy is superior to CSII therapy alone, but little is known on the effectiveness of sensor-augmented multiple daily injections (MDI) therapy. We compared during everyday life mean glucose control and several variability indexes recorded for 3 days by a real-time glucose sensor (Medtronic, Northridge, CA) in two groups of children treated with either CSII or MDI. Fifty-five consecutive subjects were examined: 17 receiving CSII and 38 receiving MDI basal-bolus therapy (age range, 7-22 years). All subjects wore the sensor for 4 days, and 3 days were used for statistical analysis. Mean glucose and SD, coefficient of variation (CV), mean amplitude of glucose excursion (MAGE), mean of daily differences (MODD), continuous overall net glycemic action (CONGA) at 2 and 4 h, blood glucose (BG) rate, area under the curve (AUC) above 180 mg/dL and below 70 mg/dL, Low BG Index (LBGI), and High BG Index (HBGI) were calculated. Patients receiving CSII administered more daily boluses than patients receiving MDI (5.2±1.5 vs. 3.2±0.3, respectively; P=0.001). Mean glucose was lower in the CSII group. AUC above 180 mg/dL and HBGI were higher in the MDI group. CV, CONGA at 2 h, CONGA at 2 h during the day, and HBGI were worse in the MDI group, whereas MODD, LBGI, BG rate, and MAGE were similar. A positive correlation (r=0.95; P<0.05) was found between the paired sensor-meter values. For the glucose values <70 mg/dL, sensitivity was 40%, and specificity was 99%. In our pediatric patients during everyday life sensor-augmented CSII therapy seemed more effective than sensor-augmented MDI therapy, in terms both of glucose mean values and of intraday variability. Mild hypoglycemic episodes and indexes of low BG values were similar in the two groups, although the latter results may be inaccurate because of low sensor sensitivity at low glucose value.
    Full-text · Article · Aug 2011 · Diabetes Technology & Therapeutics
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    [Show abstract] [Hide abstract] ABSTRACT: The association between maturity onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM) has been rarely described. We report two patients affected by MODY who developed T1DM. Case 1: a 4-yr-old girl referred for glycosuria presented hemoglobin A1c (HbA1c) of 6.6%. Islet cell antibodies (ICA) and anti-glutamic acid decarboxylase (GADA) were initially negative. As her father, uncle and grandmother showed mild hyperglycemia, they were screened for MODY 2. A novel mutation in glucokinase gene was found in the family. Few months later, her glycemic control worsened consistently and she required insulin treatment. A high titer of GADA and ICA was then detected. Six years afterwards insulin requirement is 0.8 U/kg and HbA1c 6.7%. Case 2: a 15-yr-old boy treated for growth hormone deficiency was found with a blood glucose level of 106 mg/dL. HbA1c was 7.2%, ICA and GADA were negative. Family history was positive for autoimmune diseases and type 2 diabetes mellitus. The patient was investigated for MODY 2 and MODY 3, and a mutation of hepatocyte nuclear factor-1 alpha gene was found. The same mutation was found in the mother who had never been referred for hyperglycemia. After 1 yr, due to an unjustified worsening of the metabolic control, autoimmunity was again investigated and a mild positivity was found. He then required insulin therapy and after 5 yr current HbA1c was 8.2%. The diagnosis of MODY does not exclude the risk of developing T1DM. Therefore autoimmunity should be investigated when ordinary treatments fail and metabolic control unexpectedly worsens.
    Full-text · Article · Jun 2011 · Pediatric Diabetes
  • [Show abstract] [Hide abstract] ABSTRACT: Congenital adrenal hyperplasia (CAH) is mainly caused by the deficiency of the 21-hydroxylase enzyme coded by the CYP21A2 gene. However, some alleles in the non-classical form (NC-CAH) remain without identified mutations, suggesting the involvement of regulatory regions. Our objective was to study an allele carrying the variant *13 G>A in the 3'UTR of the CYP21A2 gene identified in some patients with a mild form of NC-CAH in order to verify the possible implication of this variation with the phenotype observed. Among all the subjects in whom the CYP21A2 gene was analyzed, 14 patients and 7 relatives heterozygous or homozygous for the *13 G>A substitution in 3'UTR were selected. Sequencing of DNA, genotyping, multiplex ligation-dependent probe amplification (MLPA), in vitro studies and bioinformatic analysis were performed. The haplotype of the *13 G>A allele was identical in all the subjects with a monomodular structure composed by one C4A gene and one CYP21A2 gene without a second module with the CYP21A1P pseudogene. No other concomitant mutations were found in the region extending from 3 kb in the promoter and encompassing the polyadenylation signal. Both bioinformatic analysis and in vitro studies predicted an alteration of the RNA folding and expression, but no miRNA target sequences were found in this region. The identification of a substitution in the 3'UTR of the gene associated with a mild form of NC-CAH suggests the importance of analyzing the CYP21A2 untranslated regions to better characterize and treat this subgroup of patients.
    No preview · Article · Apr 2011 · Journal of endocrinological investigation
  • [Show abstract] [Hide abstract] ABSTRACT: The inlet patch (IP) is an area of heterotopic gastric mucosa in the cervical esophagus commonly seen during upper endoscopy. Although generally asymptomatic IP has been associated with esophageal and supraesophageal symptoms and, though rare, in adult with malignant transformation. We describe two cases of recurrent episodes of laryngospasm associated with IP. In both cases there was a good response to prolonged acid suppression therapy.
    No preview · Article · Apr 2011 · Pediatric Pulmonology
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    [Show abstract] [Hide abstract] ABSTRACT: To compare the psychological adjustment and behaviour of congenital hypothyroidism (CH) children and their parents with a control group. A cross-sectional study was carried out with 84 CH subjects diagnosed by neonatal screening (range 2.7-18.6 years), subdivided into four age groups: group 1 (2-5 years); group 2 (6-10 years); group 3 (11-13 years); and group 4 (14-18 years) and was compared with an age-matched control group. Patients were assessed using two questionnaires: Child Behaviour Checklist for parents and Youth Self-Report for children over 11 years of age. In groups 1, 3 and 4, total score (TS), internalising score (IS=problems within the self) and externalising score (ES=conflicts with other people) as reported by parents were not significantly different in CH patients and in controls. In group 2, parents of CH children showed values of TS (P<0.05), IS (P<0.05), ES (P<0.05) and scores on other scales significantly higher than controls. In self-reports of groups 3 and 4, the behavioural scales were not significantly different in CH patients and in controls. Paediatricians should be informed about the increased risk of the development of behavioural problems at primary school age in CH patients. At this age special attention should be paid to parental worries and anxiety. However, it can be reassuring for the patients and parents to know that the problems may be related to CH, and that they may spontaneously disappear.
    Full-text · Article · Feb 2011 · European Journal of Endocrinology
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    [Show abstract] [Hide abstract] ABSTRACT: To evaluate the frequency of normalization, the persistence of remission, and the impact on normalization of glycemic control and lipid profile, we analyzed data from a retrospective observational cohort study of type 1 diabetic children and adolescents with abnormal urinary albumin excretion (UAE). All diabetic children and adolescents (n = 41) who had persistent abnormal UAE in the period of 1984 to 2008 and followed up until 2009 (follow-up duration = 13.1 ± 6.2 years) were included in the study. Nine patients progressed to macroalbuminuria; 24 patients were administered ACE inhibitor treatment. The cumulative prevalence of abnormal UAE was 9%. During follow-up, 14 of 17 untreated and 19 of 24 treated patients reverted to normoalbuminuria. In the remission group compared with the nonremission group, A1C levels during follow-up decreased (7.5 ± 1.0 vs. 9.4 ± 1.2%, P < 0.0001) and serum HDL cholesterol increased (52.7 ± 11.3 vs. 42.7 ± 8.6 mg/dL, P < 0.05). The micro-macroalbuminuric patients had lower HDL cholesterol (51.0 ± 11.4 vs. 62.4 ± 13.6 mg/dL, P < 0.0001) than 134 normoalbuminuric diabetic patients. Microalbuminuria and macroalbuminuria were not permanent in most of our diabetic children and adolescents. If abnormal UAE values are high and persist for >1 year, only long-lasting treatment with ACE inhibitors seems able to induce persistent remission, especially when associated with good metabolic control and high HDL cholesterol levels.
    Full-text · Article · Feb 2011 · Diabetes care
  • No preview · Article · Jan 2011 · Journal of Inherited Metabolic Disease
  • No preview · Article · Jan 2011 · Journal of Inherited Metabolic Disease
  • [Show abstract] [Hide abstract] ABSTRACT: GH therapy response varies substantially among patients. Several models were developed to predict the efficacy of GH therapy in children. To evaluate the accuracy of a growth prediction model using data from an Italian pediatric GH deficiency (GHD) cohort (GeNeSIS, Growth Prediction Sub-study). Open-label, multicenter study in 22 Italian pre-pubertal GH treatment- naïve patients with GHD (8 female, 14 male, 0.5 to 12.2 yr), 18 isolated GHD, 4 multiple pituitary hormone deficiency given recombinat human GH therapy (0.025-0.035 mg/kg/day) for 12 months. Growth prediction was performed, after 3 months of treatment, using baseline data [bone age (BA) and IGF-I], a urinary marker of bone turnover [deoxypyridinoline crosslinks (DPD)] at 4 weeks, and height velocity (HV) at 3 months. Results were expressed as 1st-yr HV using the following equation: 1-yr HV (cm) = 3.543 - (2.337 × BA) - (0.010 × IGF-I) + (0.100 × DPD) + (0.299 × 3-month HV). Predictions were compared to the 1st-yr HV and accuracy was calculated as percentage of the difference between mean calculated HV and the real 1st-yr HV. For females predicted HV was 12.98 ± 4.82 cm/yr and actually was 13.05 ± 3.91 cm/yr after the 1st year; for males predicted HV was 13.95 ± 5.39 cm/yr and actually was 12.93 ± 5.02 cm/yr. In this paediatric Italian cohort with GHD, a growth prediction model seems to be a valid tool to assess 1st-yr response to GH treatment in Italian children.
    No preview · Article · Oct 2010 · Journal of endocrinological investigation
  • A Balsamo · L Baldazzi · S Menabò · Alessandro Cicognani
    [Show abstract] [Hide abstract] ABSTRACT: Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. Steroid 21-hydroxylase deficiency (21-OHD), the principal focus of this review, accounts for about 90-95% of all CAH cases, and its biochemical and clinical severity depends on the underlying CYP21A2 gene disruption. Molecular genetic advancements have been achieved in recent years, and the aim of this review is to attempt to highlight its contribution to the comprehension and management of the disease. When possible, we will try to achieve this goal also by providing some results from our personal experience regarding: some aspects of CYP21A2 gene analysis, with basic genotype/phenotype relationships; its crucial role in both genetic counselling and in prenatal diagnosis and treatment in families at risk for 21-OHD; its help in the comprehension of the severity of the disease in patients diagnosed by neonatal screening and possibly treated before an evident salt-loss crisis or before performing adequate blood sampling; its usefulness in the definition of post ACTH 17-hydroxyprogesterone values, discriminating between non-classic, heterozygote and normal subjects; and finally the contribution of genes other than CYP21A2 whose function or dysfunction could influence 21-hydroxylase activity and modify the presentation or management of the disease.
    No preview · Article · Sep 2010 · Sexual Development
  • No preview · Conference Paper · Jun 2010
  • A Cicognani · P Pirazzoli · A Nicoletti · F Baronio · V Conti · S Bonetti
    [Show abstract] [Hide abstract] ABSTRACT: Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.
    No preview · Article · Jun 2010 · Journal of endocrinological investigation
  • [Show abstract] [Hide abstract] ABSTRACT: Anthropometry is the technique of expressing body shape in quantitative terms. The measurements are compared with the standard growth curves for the general population and expressed as a SD score or percentiles. The comparison of the different parameters with normal standards requires: standardized landmarks on the body, standardized methods of taking measurements, and standard equipment. Skeletal dysplasias generally present with disproportionate short stature, that may be caused primarily by a short trunk or short limbs. If short limbs are observed, the reduction may affect the proximal (rhizomelic), the middle (mesomelic) or distal (acromelic) segments. Anthropometric measurements should include all the segments of the arms and the legs with a comparison with the normal standards for height age. Short stature homeobox- containing (SHOX) gene defects determine a highly variable phenotype, that includes an osteochondrodysplasia with mesomelic short stature and Madelung deformity, but also presentations without evident malformations. Anthropometric indicators of SHOX deficiency are: disproportionate short stature, reduction of lower limb, reduction of the ratio between arm span and forearm length with respect to height, increase in the sitting/ height stature ratio, increase in limb circumference (arm, forearm, thigh, and leg) with respect to height and increased body mass index. In some forms of skeletal dysplasias and in particular in SHOX gene anomalies that have many characteristics superimposable to idiopathic short stature, only an accurate auxo-anthropometric and dysmorphologic evaluation enable us to propose, fairly accurately, the subjects for the gene study.
    No preview · Article · Jun 2010 · Journal of endocrinological investigation

Publication Stats

4k Citations
604.48 Total Impact Points


  • 1973-2014
    • University of Bologna
      Bolonia, Emilia-Romagna, Italy
  • 2011
    • Università degli Studi di Messina
      • Dipartimento di Medicina Clinica e Sperimentale
      Messina, Sicily, Italy
  • 2003-2008
    • Policlinico S.Orsola-Malpighi
      Bolonia, Emilia-Romagna, Italy
  • 2001
    • St George's, University of London
      Londinium, England, United Kingdom
  • 1996
    • Università Cattolica del Sacro Cuore
      Milano, Lombardy, Italy
  • 1995
    • Catholic University of the Sacred Heart
      Milano, Lombardy, Italy
  • 1990
    • Università degli Studi di Siena
      Siena, Tuscany, Italy