Your browser doesn't support javascript.
loading
: 20 | 50 | 100
1 - 20 de 23
1.
J Endocrinol Invest ; 2024 Feb 20.
Article En | MEDLINE | ID: mdl-38376731

PURPOSE: Transition from pediatric to adult care is associated with significant challenges in patients with Turner syndrome (TS). The objective of the TRansition Age Management In Turner syndrome in Italy (TRAMITI) project was to improve the care provided to patients with TS by harnessing the knowledge and expertise of various Italian centers through a Delphi-like consensus process. METHODS: A panel of 15 physicians and 1 psychologist discussed 4 key domains: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders. RESULTS: A total of 41 consensus statements were drafted. The transition from pediatric to adult care is a critical period for patients with TS, necessitating tailored approaches and early disclosure of the diagnosis to promote self-reliance and healthcare autonomy. Fertility preservation and bone health strategies are recommended to mitigate long-term complications, and psychiatric evaluations are recommended to address the increased prevalence of anxiety and depression. The consensus also addresses the heightened risk of metabolic, cardiovascular and autoimmune disorders in patients with TS; regular screenings and interventions are advised to manage these conditions effectively. In addition, cardiac abnormalities, including aortic dissections, require regular monitoring and early surgical intervention if certain criteria are met. CONCLUSIONS: The TRAMITI consensus statement provides valuable insights and evidence-based recommendations to guide healthcare practitioners in delivering comprehensive and patient-centered care for patients with TS. By addressing the complex medical and psychosocial aspects of the condition, this consensus aims to enhance TS management and improve the overall well-being and long-term outcomes of these individuals.


The TRansition Age Management in Turner syndrome in Italy (TRAMITI) project aims to improve care for individuals with Turner Syndrome (TS) during their transition from pediatric to adult care. A team of 15 physicians and 1 psychologist collaborated to create a comprehensive set of 41 consensus statements, covering four key areas: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders. The consensus statements highlight the importance of patient-centered care, early intervention and long-term monitoring. They emphasize a multidisciplinary approach to address the complex medical and psychosocial aspects of TS. During the critical transition period, tailored approaches and early disclosure of the diagnosis are recommended to promote self-reliance and healthcare autonomy. To mitigate long-term complications, the consensus addresses fertility preservation and bone health strategies. It also recommends psychological or psychiatric evaluations to tackle the increased prevalence of anxiety and depression in patients with TS. In addition, strategies for addressing the heightened risk of metabolic, cardiovascular and autoimmune disorders in patients with TS are proposed. Regular screenings and interventions are advised to effectively manage these conditions. Furthermore, cardiac abnormalities, including aortic dissections, require close monitoring and early surgical intervention if specific criteria are met. Overall, the TRAMITI consensus statement provides valuable insights and evidence-based recommendations. It offers guidance for healthcare practitioners in delivering comprehensive and patient-centered care for individuals with TS. By addressing both medical and psychosocial aspects, the consensus aims to enhance TS management and improve the well-being and long-term outcomes of those affected by this genetic disorder.

2.
Front Immunol ; 14: 1224603, 2023.
Article En | MEDLINE | ID: mdl-37600787

We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient's mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH - IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.


Common Variable Immunodeficiency , Immunologic Deficiency Syndromes , Child , Humans , Female , Haploinsufficiency , Common Variable Immunodeficiency/diagnosis , Common Variable Immunodeficiency/genetics , Frameshift Mutation , Mothers , NF-kappa B p50 Subunit/genetics
3.
Eur J Clin Nutr ; 76(4): 604-609, 2022 04.
Article En | MEDLINE | ID: mdl-34363054

BACKGROUND/OBJECTIVES: During pregnancy, body composition alterations can be considered as markers of complications and in this context, a non-invasive and low-cost method such as Bioelectrical Impedance Vector Analysis (BIVA), can be employed to monitor such changes. This study aimed at identifying body compartments trend during physiological pregnancy. SUBJECTS/METHODS: Classic and specific BIVA variables have been measured in a sample of 37 pregnant women approximately every 4 weeks of gestation and once postpartum. Researchers used both longitudinal and cross-sectional approach. The first case included data of women from the 11th to the 15th week along with data from the 28th to the 32nd week of gestation. The cross-sectional approach regarded two more specific moments (11th-12th weeks and 30th-31st weeks) and data within two months postpartum RESULTS: The longitudinal approach showed a significant decrease in classic BIVA variables (R/H, Xc/H, Z/H p < 0.001) and a shortening of the vector, pointing out that TBW and hydration increased significantly. Specific vector length increased significantly, indicating a physiological gain of FM% (p < 0.01). The cross-sectional approach showed lower values of R/H, Xc/H, Z/H between 12th-13th and 30th-31st weeks (p < 0.01), while in the postpartum period values tended to those registered at the beginning of pregnancy. No changes have been found for the phase angle in both approaches, indicating that ECW/ICW ratio remained constant CONCLUSIONS: Among physiological pregnancies, bioelectric values showed a coherent trend and these results represent a first contribution to support routine exams, leading to an early detection of anomalous values potentially correlated to pathologies.


Body Composition , Body Composition/physiology , Electric Impedance , Female , Humans , Pregnancy
4.
Eur Rev Med Pharmacol Sci ; 25(18): 5836-5842, 2021 09.
Article En | MEDLINE | ID: mdl-34604975

OBJECTIVE: Functional gastrointestinal disorders are common gastrointestinal diseases. The pathophysiology is multifactorial and psychosocial distress worsens symptoms severity. Since the end of 2019 the world has been facing COVID-19 pandemic. The associated control measures have affected the psychological health of people. The aim of the present study is to evaluate the impact of the COVID-19 pandemic on the prevalence of functional gastrointestinal disorders among Italian children and adolescents. PATIENTS AND METHODS: The study sample is composed of 407 patients (187 males, 220 females), aged from 10 to 17 years. The mean age is 14.27 ± 2.24 years. The study was conducted through the Italian version of the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III Version.  The prevalence of each disorder has been calculated as the ratio of affected subjects for each disease and the total number of effective cases for that specific disease. RESULTS: The study demonstrates that the prevalence of Functional Gastrointestinal Disorder in Italian children, during the COVD-19 pandemic, is higher, compared with the one reported in the previous studies. The most frequent disorders are Abdominal Migraine and Irritable Bowel Syndrome. CONCLUSIONS: Our study is the first one which provides data of the prevalence of Functional gastrointestinal disorders in sample of Italian adolescents, during the COVID-19 pandemic. The study underlines the need to focus on stress management, in order to reduce the effects of the lockdown on the psychological wellness of the youngest.


COVID-19/psychology , Gastrointestinal Diseases/etiology , Gastrointestinal Diseases/psychology , Quarantine/psychology , Social Isolation/psychology , Stress, Psychological/complications , Abdominal Pain/epidemiology , Abdominal Pain/etiology , Abdominal Pain/psychology , Adolescent , Aerophagy/epidemiology , Aerophagy/etiology , Aerophagy/psychology , COVID-19/epidemiology , COVID-19/prevention & control , Child , Constipation/epidemiology , Constipation/etiology , Constipation/psychology , Dyspepsia/epidemiology , Dyspepsia/etiology , Dyspepsia/psychology , Fecal Incontinence/epidemiology , Fecal Incontinence/etiology , Fecal Incontinence/psychology , Female , Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/epidemiology , Humans , Irritable Bowel Syndrome/epidemiology , Irritable Bowel Syndrome/etiology , Irritable Bowel Syndrome/psychology , Italy , Male , Migraine Disorders/epidemiology , Migraine Disorders/etiology , Migraine Disorders/psychology , Prevalence , Rumination Syndrome/epidemiology , Rumination Syndrome/etiology , Rumination Syndrome/psychology , Stress, Psychological/diagnosis , Surveys and Questionnaires , Vomiting/epidemiology , Vomiting/etiology , Vomiting/psychology
5.
J Endocrinol Invest ; 44(3): 493-503, 2021 Mar.
Article En | MEDLINE | ID: mdl-32557273

PURPOSE: To investigate the long-term safety (primary endpoint) and effectiveness (secondary endpoint) of the somatropin biosimilar Omnitrope®. METHODS: PATRO Children is an ongoing, multicenter, observational, post-marketing surveillance study. Children who received Omnitrope® for any indication were included. Adverse events (AEs) were evaluated in all study participants. Auxological data, including height standard deviation scores (HSDS) and height velocity standard deviation scores (HVSDS), were used to assess effectiveness. In this snapshot analysis, data from the Italian subpopulation up to August 2017 were reported. RESULTS: A total of 291 patients (mean age 10.0 years, 56.0% male) were enrolled at 19 sites in Italy. The mean duration of Omnitrope® treatment was 33.1 ± 21.7 months. There were 48 AEs with a suspected relationship to the study drug (as reported by the investigator) that occurred in 35 (12.0%) patients, most commonly headache, pyrexia, arthralgia, insulin-like growth factor above normal range, abdominal pain, pain in extremity and acute gastroenteritis. There were no confirmed cases of type 1 or type 2 diabetes; however, two patients (0.7%) had impaired glucose tolerance that was considered Omnitrope® related. The mean HSDS increased from - 2.41 ± 0.73 at baseline (n = 238) to - 0.91 ± 0.68 at 6.5 years (n = 10). The mean HVSDS increased from - 1.77 ± 1.38 at baseline (n = 136) to 0.96 ± 1.13 at 6.5 years (n = 10). CONCLUSIONS: In this sub-analysis of PATRO Children, Omnitrope® appeared to have acceptable safety and effectiveness in the treatment of in Italian children, which was consistent with the earlier findings from controlled clinical trials.


Biosimilar Pharmaceuticals/therapeutic use , Growth Disorders/drug therapy , Human Growth Hormone/therapeutic use , Product Surveillance, Postmarketing/methods , Child , Female , Follow-Up Studies , Growth Disorders/epidemiology , Humans , Longitudinal Studies , Male , Prognosis
6.
J Endocrinol Invest ; 44(7): 1465-1474, 2021 Jul.
Article En | MEDLINE | ID: mdl-33095904

PURPOSE: Early institution of GH therapy in children with Prader-Willi syndrome (PWS) yields beneficial effects on their phenotype and is associated with a persistent improvement of body composition, both in the transition age and in adulthood. Reports from GH stimulation testing in PWS adults, however, suggest that GH deficiency (GHD) is not a universal feature of the syndrome, and the current Consensus Guidelines suggest to perform a reassessment of persistent GHD so as to continue GH therapy after reaching adult height. Few data about GH responsiveness to stimulation testing throughout the transitional period in PWS are available to date. Thus, we investigated the prevalence of GHD in a large cohort of patients with PWS during the transition phase. PATIENTS AND METHODS: One hundred forty-one PWS patients, 72 females and 69 males, aged 15.4-24.9 years, were evaluated by dynamic testing with growth hormone-releasing hormone (GHRH) plus arginine (GHRH + ARG). To define GHD, both BMI-dependent and BMI-independent diagnostic cut-off limits were considered. RESULTS: According to BMI-dependent criteria, 10.7% of normal weight (NW), 18.5% of overweight and 22.1% of obese PWS maintained a status of GHD. Similar results were obtained by adopting a cut-off limit specific for the adult age (26.2%), as well as criteria for the transition phase in NW subjects (25%). CONCLUSION: Our study shows that about 20% of patients with PWS fulfilled the criteria for GHD during the transitional age, suggesting the need of an integrated analysis of GH/IGF-I axis, in the context of the general clinical picture and other endocrine abnormalities, in all subjects after attainment of final stature.


Human Growth Hormone/administration & dosage , Human Growth Hormone/metabolism , Prader-Willi Syndrome/drug therapy , Adolescent , Adult , Arginine/metabolism , Body Composition , Female , Follow-Up Studies , Growth Hormone-Releasing Hormone/metabolism , Humans , Insulin-Like Growth Factor I/metabolism , Male , Obesity/physiopathology , Prader-Willi Syndrome/metabolism , Prader-Willi Syndrome/pathology , Prognosis , Retrospective Studies , Young Adult
7.
J Neonatal Perinatal Med ; 11(4): 423-425, 2018.
Article En | MEDLINE | ID: mdl-30149478

We report a 3-month-old male with Down syndrome (DS), prolonged jaundice and poor weight gain, that showed biliary lithiasis and undiagnosed congenital hypothyroidism (CH).CH should be considered in DS, especially in presence of gastrointestinal symptoms or malformations. Clinicians should be aware of the increased risk of gallstones in hypothyroid children with DS, even in neonatal age.


Bile Ducts/diagnostic imaging , Cholagogues and Choleretics/therapeutic use , Cholelithiasis/drug therapy , Down Syndrome/physiopathology , Gallbladder/diagnostic imaging , Hypothyroidism/physiopathology , Ursodeoxycholic Acid/therapeutic use , Bile Ducts/abnormalities , Cholelithiasis/diagnostic imaging , Cholelithiasis/etiology , Cholelithiasis/physiopathology , Down Syndrome/complications , Humans , Hypothyroidism/drug therapy , Hypothyroidism/etiology , Infant , Male , Treatment Outcome , Ultrasonography
10.
Lupus ; 23(13): 1392-406, 2014 Nov.
Article En | MEDLINE | ID: mdl-25074873

BACKGROUND: Few prospective data have been published on the comparison of bone density and quality in homogeneous groups of patients with juvenile systemic lupus erythematosus (JSLE) and juvenile idiopathic arthritis (JIA). OBJECTIVE AND HYPOTHESIS: The objective of this study is to perform a longitudinal evaluation of the prevalence and the characteristics of bone mass and quality and to evaluate the differences on the bone parameters, using DXA, pQCT and QUS. POPULATION AND/OR METHODS: Forty-three JSLE patients (35 females, 8 males, median age 18.8, range 14.0-34.1 years) have been studied with DXA, pQCT and QUS scans and compared with 138 JIA patients (112 females, 26 males, median age 18.9, range 13.4-33.2 years), and 79 controls (59 females, 20 males; median age 19.3, range 13.5-36.5 years). Of these, 39 patients (32 females and 7 males, median age 20.3, range 16.6-36.8 years) with JSLE were followed longitudinally and compared with 131 patients (108 females, 23 males median age 20.7, range 15.8-37.1 years) with JIA and 63 controls (48 females, 15 males; median age 21.9, range 15.5-38.3 years). RESULTS: JSLE patients have a higher bone cortical density (CrtBMD) than controls and JIA patients (p < 0.005). However, JSLE and JIA patients have a significantly reduced bone trabecular density (TrbBMD) compared to controls (p < 0.0001), with no differences between JSLE and JIA. In addition, JIA patients show a significantly reduced muscle area (MuscleCSA) compared to JSLE and controls (p < 0.001). Conversely, fat area (FatCSA) is significantly increased both in JIA and JSLE patients when compared to controls (p < 0.001), with no differences between the JSLE and JIA groups. Analogous results are observed in the polar resistance to stress (SSIp). On longitudinal evaluation, contrary to CrtBMD, the difference between BMAD SDS, TrbBMD, MuscleCSA and FatCSA remains unchanged; in JSLE patients, SSIp is stable in comparison to JIA and controls without any difference between the two groups. CONCLUSIONS: The evaluation of bone density and structure parameters in JSLE patients highlights significant differences compared with JIA patients and controls. These data might indicate a different pathogenesis of bone damage in the two entities, and suggest a different diagnostic and therapeutic approach to improve the peak bone mass.


Arthritis, Juvenile/physiopathology , Bone Density , Bone and Bones/diagnostic imaging , Lupus Erythematosus, Systemic/physiopathology , Absorptiometry, Photon , Adipose Tissue/diagnostic imaging , Adolescent , Adult , Female , Humans , Longitudinal Studies , Male , Muscle, Skeletal/diagnostic imaging , Ultrasonography , Young Adult
11.
Lupus ; 23(10): 1059-65, 2014 Sep.
Article En | MEDLINE | ID: mdl-24731961

BACKGROUND: SS and LC contributed equally to this manuscript. Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), few data are reported in juvenile-onset SLE (JSLE) patients. DESIGN: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population. METHODS: Forty-five Caucasian JSLE patients (36 females, nine males; mean age 18.9±6.3 years) and 109 age- and sex-matched healthy controls entered the study. Dual-energy X-ray absorptiometry (DXA) scans of the lumbar spine, serum calcium and phosphate, bone-specific alkaline phosphatase (BSAP), parathyroid hormone (PTH), and 25(OH)D were assessed. The data were compared with an age- and sex-matched control group including 109 Caucasian healthy subjects. RESULTS: JSLE patients exhibited lower 25(OH)D levels than controls (p<0.005), with the lower values observed in patients with active vs. inactive disease (p<0.05). JSLE patients exhibited reduced total calcium levels (p<0.001) and higher phosphate levels (p<0.001), BSAP (p<0.001) and PTH (p<0.001) than controls. In addition, JSLE patients exhibited lower spine bone mineral apparent density (BMAD) SDS values than controls (p<0.001), with higher values in patients with 25(OH)D sufficiency and insufficiency than in those with 25(OH)D deficiency (p<0.001). CONCLUSIONS: Patients with JSLE have significantly lower 25(OH)D levels than controls. Therefore, vitamin D supplementation may be useful to normalize bone mass and quality in subjects with JSLE.


Lupus Erythematosus, Systemic/blood , Vitamin D Deficiency/blood , Vitamin D/analogs & derivatives , Adolescent , Adult , Age Factors , Age of Onset , Biomarkers/blood , Case-Control Studies , Cross-Sectional Studies , Female , Humans , Italy/epidemiology , Lupus Erythematosus, Systemic/diagnosis , Lupus Erythematosus, Systemic/epidemiology , Male , Vitamin D/blood , Vitamin D Deficiency/diagnosis , Vitamin D Deficiency/epidemiology , Young Adult
12.
Lupus ; 23(1): 57-68, 2014.
Article En | MEDLINE | ID: mdl-24218395

INTRODUCTION: There are few prospective data on bone mass and quality in patients with juvenile onset systemic lupus erythematosus (JSLE). There are also few studies analyzing bone mass and quality determinants by using at the same time dual-energy X-ray absorptiometry (DXA), peripheral quantitative computed tomography (pQCT) and quantitative ultrasound (QUS). OBJECTIVE: The objective of this paper is to evaluate cross-sectionally and longitudinally bone mass and quality determinants in adolescents and young adults with JSLE, and to identify the main predictors of reduced bone mineral density (BMD) and bone quality using these techniques. METHODS: Fifty-six patients with JSLE (mean age 18.5 ± 5.7 years) entered the study. In all subjects DXA scan at the lumbar spine, radius pQCT and phalangeal QUS were performed the same day. Of these, 46 patients (mean age 23.1 ± 6.2 years) were revaluated with a second DXA, pQCT and QUS. The data obtained were compared with 72 and 80 age- and sex- matched healthy controls. RESULTS: At the first evaluation, JSLE patients had a reduced spine BMAD SDS (p < 0.001), and significantly lower levels of TrabBMD (p < 0.0001), SSIp (p < 0.05), AD-SoS and QUS z-score (p < 0.005) but not reduced muscle CSA and CBA values. CortBMD and FatCSA were significantly increased (p < 0.0001). These data were confirmed at longitudinal evaluation regarding spine BMAD SDS (p < 0.001), TrabBMD (p < 0.0001), FatCSA (p < 0.005), AD-SoS (p < 0.001), and QUS z-score (p < 0.005) but not muscle CSA (p ≤ 0.05) and CBA (p < 0.0001). SSIp and CortBMD longitudinal evaluation showed that JSLE patients did not present significant differences in comparison to controls. CONCLUSIONS: Patients with JSLE have a low bone mass without catch-up growth over time, causing a reduction of peak bone mass with high risk of osteoporosis in early adulthood. To reduce the risk, close monitoring of BMD, better control of disease activity, physical activity and dietary intake of calcium and vitamin D are advocated to ameliorate the loss of bone mass. In patients with proved osteoporosis therapeutic approaches including bisphosphonates should be considered.


Bone Density/physiology , Bone and Bones/diagnostic imaging , Bone and Bones/pathology , Lupus Erythematosus, Systemic/diagnostic imaging , Lupus Erythematosus, Systemic/physiopathology , Absorptiometry, Photon/standards , Adolescent , Bone and Bones/physiopathology , Female , Humans , Longitudinal Studies , Lupus Erythematosus, Systemic/epidemiology , Male , Tomography, X-Ray Computed/standards , Ultrasonography , Young Adult
13.
Horm Res Paediatr ; 74(3): 165-71, 2010.
Article En | MEDLINE | ID: mdl-20516649

INTRODUCTION: Data concerning final height are completely lacking in human immunodeficiency virus (HIV)-infected children. DESIGN: Retrospective evaluation of auxological data up to final height in a cohort of patients with perinatal HIV infection. PATIENTS AND METHODS: In 95 Caucasian patients (57 females and 38 males, median age 17.5 years) the following data were evaluated as standard deviation (SD) score: prepubertal height (PrH), height velocity (HV), final height (FH), target height (TH), FH minus PrH, predicted adult height (PAH), FH minus PAH, and FH minus TH. RESULTS: Patients showed a significantly reduced PrH and FH compared to their TH (p < 0.001), even if no difference was evidenced between PrH and FH. Age at puberty onset displayed a negative significant correlation with PrH (p = 0.002) and CD4+ cell percentage (p < 0.01). Finally, HV displayed a significant correlation with viremia (p = 0.001), but not with CD4+ cell percentage. CONCLUSIONS: HIV perinatally infected patients show a FH significantly reduced and not in accordance with TH. Our data seem to suggest that the losses in stature accumulated throughout the total period of childhood and adolescence may contribute to their reduced FH.


Body Height , HIV Infections/complications , Pregnancy Complications, Infectious , Adolescent , Female , HIV , Humans , Male , Pregnancy , Retrospective Studies
14.
J Pediatr Endocrinol Metab ; 22(9): 853-8, 2009 Sep.
Article En | MEDLINE | ID: mdl-19960895

Anhidrotic/hypohidrotic ectodermal dysplasia is a rare disorder, genetically heterogeneous, commonly X-linked recessive inherited, characterized by hypoplasia up to the absence of the eccrine glands with hypo-anhidrosis and secondary hyperpyrexia, hypodontia and some typical craniofacial features. Some papers have described how these patients may show poor growth, while other recent research shows normal growth. We report a boy with anhidrotic/hypohidrotic ectodermal dysplasia and growth hormone neurosecretory dysfunction, an association not previously reported, and we discuss the possible causes as well as the patient's response to growth hormone treatment until he reached final height.


Body Height/drug effects , Ectodermal Dysplasia/drug therapy , Growth Disorders/drug therapy , Human Growth Hormone/therapeutic use , DNA Mutational Analysis , Ectodermal Dysplasia/complications , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/physiopathology , Growth Disorders/complications , Growth Disorders/genetics , Growth Disorders/physiopathology , Hormone Replacement Therapy , Human Growth Hormone/deficiency , Human Growth Hormone/metabolism , Humans , Long-Term Care , Male , Neurosecretory Systems/physiopathology , Pedigree , Polymorphism, Single Nucleotide , Time Factors , Young Adult
15.
Horm Res ; 70(5): 316-8, 2008.
Article En | MEDLINE | ID: mdl-18824871

In the Williams-Beuren syndrome (WBS), disorders of the thyroid function and morphology have been reported and programs of thyroid screening and surveillance are recommended. However, the frequency of biochemical thyroid assessment, particularly in the first year of life, is being debated. In this report we describe an infant with WBS and congenital hypothyroidism, due to an important thyroid hypoplasia. The patient, a 1-month-old female, negative at primary neonatal thyroid screening, was referred to our hospital for dyspnea. Thyroid function tests showed a raised TSH (42 mIU/l; normal range 0.5-4 mIU/l) with a low FT(4) concentration (10.21 pmol/l; normal range: 10.29-24.45 pmol/l). Ultrasound examination of the neck showed a significant thyroid hypoplasia, whereas (99m)Tc-pertechnetate thyroid scintigraphy evidenced a thyroid gland in normal position, with reduced shape and overall weak fixation. Therefore, treatment with L-thyroxinewas started. Thyroid hypoplasia is a frequent characteristic of WBS and abnormalities of thyroid function are common in patients with this feature. Therefore, the possibility of congenital hypothyroidism should always be taken into consideration too and, even if congenital hypothyroidism neonatal screening is negative, thyroid (morphology and function) evaluation should be regularly assessed when the diagnosis is made and, thereafter, every year in the first years of life.


Congenital Hypothyroidism/etiology , Thyroid Gland/abnormalities , Williams Syndrome/complications , Congenital Hypothyroidism/drug therapy , Congenital Hypothyroidism/pathology , Female , Humans , Infant, Newborn , Neonatal Screening , Thyroid Gland/pathology , Thyroxine/therapeutic use , Williams Syndrome/pathology
16.
J Pediatr Endocrinol Metab ; 21(11): 1089-92, 2008 Nov.
Article En | MEDLINE | ID: mdl-19189705

We describe a patient with the clinical spectrum of Young-Simpson syndrome. This rare genetic disorder is characterized by congenital hypothyroidism, mental retardation and blepharophimosis. Young-Simpson syndrome is, at present, poorly known to endocrinologists and pediatricians, and should be included in the differential diagnosis of congenital hypothyroidism. It is important to underline that the association of congenital hypothyroidism, blepharophimosis and ptosis allows an exact clinical diagnosis, since the majority of other clinical aspects are common to other disorders.


Abnormalities, Multiple/pathology , Blepharophimosis/pathology , Congenital Hypothyroidism/diagnosis , Intellectual Disability/pathology , Child, Preschool , Facial Bones/abnormalities , Facies , Humans , Male , Radionuclide Imaging , Syndrome , Thyroid Gland/diagnostic imaging , Thyroid Gland/pathology , Ultrasonography
17.
Rheumatology (Oxford) ; 45(7): 847-50, 2006 Jul.
Article En | MEDLINE | ID: mdl-16418194

OBJECTIVE: Kawasaki disease (KD) is an acute febrile systemic vasculitis, mainly affecting infants and young children. Immunological abnormalities during the acute phase of KD have been described extensively. However, the occurrence of a second immunological disorder in a patient with a history of KD is rarely reported. We evaluated the presence of autoimmune thyroiditis and coeliac disease (CD) in patients with KD diagnosis. METHODS: Ninety consecutive children (57 males and 33 females, median age 5.2 yr, age range 1.6-14.1 yr) with KD were evaluated. All patients were evaluated for thyroid function (thyroid-stimulating hormone, thyroxine and triiodothyronine), anti-thyroglobulin (TgA) and anti-peroxidase (TPOA) antibodies, and antigliadin, anti-endomysium and antitransglutaminase antibodies. CD was confirmed by jejunal biopsy if the specific antibody profile was positive. One hundred and fifty Italian children, matched for age and sex and from the same geographic area, acted as controls. RESULTS: A total of five patients (three boys, two girls; 5.5%; P<0.05) were found positive for coeliac antibodies. In all of these patients the diagnosis of CD was confirmed histologically. Regarding thyroid function and autoantibodies, no patient showed subclinical hypothyroidism or autoimmune thyroiditis. No differences in the familial occurrence of autoimmune diseases between KD patients and controls were found (9.1 and 7.9%, respectively). CONCLUSIONS: Our data showed a higher prevalence of CD in children with KD, and this suggests that children with KD should be monitored carefully for CD. However, there was no increase in the prevalence of autoimmune thyroid diseases in patients with KD or the familial occurrence of autoimmune diseases.


Celiac Disease/complications , Mucocutaneous Lymph Node Syndrome/complications , Adolescent , Autoantibodies/blood , Autoimmune Diseases/genetics , Celiac Disease/diagnosis , Celiac Disease/immunology , Child , Child, Preschool , Female , Humans , Infant , Male , Mucocutaneous Lymph Node Syndrome/immunology , Thyroid Function Tests/methods , Thyroid Gland/physiopathology , Thyroiditis, Autoimmune/complications , Thyroiditis, Autoimmune/immunology , Thyroiditis, Autoimmune/physiopathology
18.
Horm Metab Res ; 37(12): 751-6, 2005 Dec.
Article En | MEDLINE | ID: mdl-16372229

BACKGROUND: Growth hormone (GH) treatment in patients with GH deficiency (GHD) can determine changes in the thyroid function. The clinical significance of these changes remains controversial, and all studies have so far covered rather a short period--usually no longer than one year. OBJECTIVE: To determine the effect of long-term recombinant hGH treatment in children with idiopathic GHD on the thyroid function. PATIENTS AND METHODS: Nineteen prepubertal children (12 boys and 7 girls, mean age 9.2 +/- 3.1 years) with idiopathic GHD were studied and followed for twenty-four months. None of the patients showed multiple pituitary hormone deficiencies. Nineteen healthy children matched for age and sex acted as controls. RESULTS: Patients with GHD showed a significant increase in TT (3) at twelve months and in FT (3) at six and twelve months after starting GH treatment, with a significant decrease at eighteen and twenty-four months. TT (4) level decreased significantly at twelve months and increased significantly at eighteen and twenty-four months. FT (4) also decreased, but only slightly, after twelve months of hGH treatment, and then increased significantly at twenty-four months. TSH levels did not vary significantly during the course of therapy. TT (3)/TT (4) and FT (3)/FT (4) ratios increased significantly after six and twelve months of therapy and significantly decreased later, approaching pre-therapy values. The SDS of Growth Velocity (SDS-GV) increased remarkably during the first year of therapy and then decreased significantly during the second year, although it remained significantly higher than the pre-therapy values. TT (3) and TT (3)/TT (4) ratio displayed a significant correlation with SDS-GV at twelve months of therapy. In a multiple regression analysis with age, bone age, parental height, GH dose, TT (3,) TT (3)/TT (4), and the SDS of IGF-I, only the TT (3)/TT (4) ratio at twelve months of therapy (p < 0.001) was identified as a significant predictor of SDS-GV. CONCLUSION: Our data confirm that changes in thyroid function are present in GHD children during long-term hGH therapy. These changes probably resulted from the effect of hGH on the peripheral metabolism of thyroid hormones and appear to be transitory, disappearing during the second year of hGH treatment. We speculate on the functional significance of these changes, and in particular, on their role in catch-up growth after hGH therapy.


Growth Disorders/drug therapy , Human Growth Hormone/deficiency , Human Growth Hormone/therapeutic use , Thyroid Gland/drug effects , Body Height/drug effects , Child , Female , Follow-Up Studies , Growth Disorders/blood , Humans , Male , Matched-Pair Analysis , Recombinant Proteins , Reference Values , Thyroid Gland/physiopathology , Thyroid Hormones/blood
19.
J Pediatr Endocrinol Metab ; 18(9): 921-4, 2005 09.
Article En | MEDLINE | ID: mdl-16279371

In adult patients weight gain is a frequent complaint of hyperprolactinaemia and it has been associated with a high prevalence of obesity. Normalization of prolactin (PRL) levels result in weight loss. The nature of this link is poorly defined. In this report we describe a 14 year-old female with primary amenorrhea and persistent progressive weight gain. The patient's height, weight and BMI were 152 cm, 70 kg, and 30.3 kg/m2, respectively. Basal hormonal investigation showed normal free thyroxin, TSH, IGF-I, cortisol and ACTH values. Serum PRL level was very high (16,278 mIU/l; normal range 63-426 mIU/l). Magnetic resonance imaging scan showed the presence of a pituitary microadenoma. Treatment with the non-selective dopamine agonist pergolide caused a significant reduction of serum PRL concentration with a remarkable decrease of body weight. During follow-up, repeat MRI scan revealed disappearance of the microadenoma. The reduction of the daily dose of pergolide was associated with an increase of serum PRL with significant weight gain. A further reduction of body weight was subsequently observed with an increase of pergolide dosage. Serum PRL measurement may be useful as part of the endocrine work-up of obese children with a history of unexplained recent weight gain, especially if associated with pituitary-gonadal axis dysfunction. The relationship between PRL secretion and weight change needs to be examined in prospective larger studies.


Hyperprolactinemia/etiology , Pituitary Neoplasms/complications , Prolactinoma/complications , Adolescent , Dopamine Agonists/therapeutic use , Female , Humans , Hyperprolactinemia/drug therapy , Magnetic Resonance Imaging , Pergolide/therapeutic use , Pituitary Neoplasms/blood , Pituitary Neoplasms/drug therapy , Prolactin/blood , Prolactinoma/blood , Prolactinoma/drug therapy , Weight Gain/drug effects
...