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1.
Artigo em Inglês | MEDLINE | ID: mdl-36992762

RESUMO

Several recent studies have documented an increased incidence of newly diagnosed type 1 Diabetes (T1D) cases in children and adolescents during the COVID-19 pandemic and a more severe presentation at diabetes onset. In this descriptive study, we present the experience of the Diabetes Centre of the Division of Endocrinology, Diabetes, and Metabolism of the First Department of Pediatrics of the National and Kapodistrian University of Athens Medical School at "Aghia Sophia" Children's Hospital in Athens, Greece, concerning new cases of T1D diagnosis during the COVID-19 pandemic (March 2020- December 2021). Patients who had already been diagnosed with T1D and needed hospitalization due to poor control during the pandemic have been excluded from this study. Eighty- three children and adolescents with a mean age of 8,5 ± 4.02 years were admitted to the hospital due to newly diagnosed T1D during this 22 months' period in comparison to 34 new cases in the previous year. All patients admitted during the pandemic with a new diagnosis of T1D, presented in their majority with DKA (Ph: 7.2) representing an increase of new severe cases in comparison to previous years (Ph 7.2 versus 7.3, p value: 0.021, in the previous year), [p-value: 0.027]. 49 cases presented with DKA, of which 24 were characterized moderate and 14 severe DKA (28.9% and 16,9%, respectively), while 5 patients newly diagnosed, needed to be admitted to the ICU to recover from severe acidosis. Whether a previous COVID- 19 infection could have been the triggering factor is not supported by the SARS-Cov2 specific antibodies analysis in our cohort of patients. As far as HbA1c is concerned there was no statistically significant difference between the pre COVID-19 year and the years of the pandemic (11.6% versus 11.9%, p- value: 0.461). Triglycerides values were significantly higher in patients with new onset T1D during COVID-19 years compared to those before the pandemic (p value= 0.032). Additionally, there is a statistically significant correlation between Ph and Triglycerides for the whole period 2020-2021 (p-value<0.001), while this correlation is not significant for the year 2019. More large- scale studies are required to confirm these observations.

2.
Horm Res Paediatr ; 78(2): 127-34, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22832081

RESUMO

BACKGROUND: Turner syndrome is hypothesized to result from haploinsufficiency of certain genes expressed from both sex chromosomes that escape X inactivation. CASE REPORT: We present the rare case of a 4-year-old boy who was referred to the pediatric endocrinology unit for evaluation of slight growth delay. RESULTS: Standard cytogenetic analysis showed a 45,XO karyotype. Molecular studies disclosed the presence of an intact SRY homeobox region and the ZFY region sited on the Y short arm. Other Y chromosome sequences which are normally found on the short arm of chromosome Y (p) were absent and their exact location on a different chromosome remained unclear. Subsequently, FISH (fluorescent in situ hybridization) analysis failed to detect any Y sequences, while haplotype analysis indicated that the present X chromosome was of paternal origin. CONCLUSION: Phenotype-genotype correlation studies were consistent with a male patient presenting with short stature and some of the Turner's syndrome stigmata. The consequences for the patients with this chromosomal abnormality and treatment with recombinant growth hormone are also discussed.


Assuntos
Deleção Cromossômica , Cromossomos Humanos X/genética , Proteínas de Homeodomínio/genética , Fatores de Transcrição Kruppel-Like/genética , Síndrome de Noonan/genética , Proteína da Região Y Determinante do Sexo/genética , Pré-Escolar , Humanos , Masculino , Proteína de Homoeobox de Baixa Estatura
3.
Hormones (Athens) ; 10(3): 207-14, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22001131

RESUMO

OBJECTIVE: Chronic autoimmune thyroiditis (AT) is the most common cause of thyroid disease in children. The aim of the study was to define the epidemiological clinical and laboratory characteristics of children and adolescents with AT. DESIGN: Various parameters including thyroid ultrasonography of 228 children and adolescents aged 10.2 ± 2.5 yrs (mean ± SD) with AT, who attended our Pediatric Endocrine Unit during a 5-year period were retrospectively analysed. RESULTS: 191 (83.8%) were female and 142 (62.3%) were pubertal. At AT diagnosis, 130 children (57.0%) were euthyroid, 75 (32.9%) had subclinical hypothyroidism, 19 (8.3%) had hypothyroidism and 4 (1.8%) had hyperthyroidism. There was a positive correlation between thyroid stimulating hormone (TSH) levels and thyroid volume SDS (r=0.15, p=0.02). Sixty-three children (28%) had a goiter and 32 (14%) had thyroid nodules. Three children (1.3%) had papillary thyroid carcinoma. Compared to euthyroid children, children with hypothyroidism were younger (9.2 ± 1.8 vs 10.6 ± 2.4 yrs, p<0.05) and had higher thyroid volume SDS (3.1 ± 1.9 vs 1.2 ± 1.2, p<0.05) and higher prevalence of goiter [11(57.9%) vs 29(22.3%), p<0.05]. CONCLUSIONS: Children and adolescents with AT are mostly asymptomatic; the majority are female, pubertal and euthyroid. Hypothyroid children with AT have higher thyroid volume, higher prevalence of goiter and higher antithyroid antibodies titers compared to euthyroid children. Diagnosing AT at an early stage offers the opportunity for a timely intervention. The potential association of AT with papillary thyroid carcinoma is an additional reason for a careful follow-up of the patients with AT.


Assuntos
Tireoidite Autoimune/epidemiologia , Adolescente , Autoanticorpos/sangue , Autoantígenos/imunologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Iodeto Peroxidase/imunologia , Proteínas de Ligação ao Ferro/imunologia , Masculino , Estudos Retrospectivos , Doenças da Glândula Tireoide/sangue , Doenças da Glândula Tireoide/diagnóstico por imagem , Doenças da Glândula Tireoide/epidemiologia , Testes de Função Tireóidea , Tireoidite Autoimune/sangue , Tireoidite Autoimune/diagnóstico por imagem , Tireoidite Autoimune/imunologia , Tireotropina/imunologia , Ultrassonografia
4.
J Pediatr Endocrinol Metab ; 24(3-4): 197-202, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21648292

RESUMO

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome in children, often occurring in association with Carney complex. We report a case of Cushing syndrome due to isolated non-familial PPNAD. The child presented with typical clinical characteristics, growth retardation and obesity. Liddle's test was positive but micronodular appearance was not evident on CT scan and MRI; selective venous sampling revealed higher cortisol concentrations in the right adrenal vein. The patient underwent a laparoscopic right adrenalectomy. Postoperatively, hypercortisolism signs disappeared but after the second year a slight increase in urinary cortisol was noted and the patient developed osteopenia. Although significant catch-up growth occurred postoperatively, height did not normalize over the next 2 years. When she entered puberty, treatment with a luteinizing-hormone-releasing hormone agonist was initiated and growth hormone was added. Almost 5 years later a left adrenalectomy was also performed. Thereafter, complete disease remission was observed, the patient's growth accelerated and her osteopenia reversed.


Assuntos
Doenças do Córtex Suprarrenal/patologia , Síndrome de Cushing/patologia , Doenças do Córtex Suprarrenal/sangue , Doenças do Córtex Suprarrenal/terapia , Adrenalectomia , Doenças Ósseas Metabólicas/tratamento farmacológico , Criança , Síndrome de Cushing/sangue , Síndrome de Cushing/terapia , Feminino , Hormônio Liberador de Gonadotropina/agonistas , Hormônio do Crescimento/uso terapêutico , Terapia de Reposição Hormonal , Humanos , Hidrocortisona/sangue , Hiperpigmentação/patologia , Indução de Remissão
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