Publications by authors named "Gerdi Tuli"

Background/objectives: Mitotane is a key component in the treatment of adrenocortical carcinoma (ACC), but its endocrine side effects in children remain under-characterized.

Methods: We conducted a retrospective analysis of 11 pediatric patients (6 males, 5 females) diagnosed with ACC and followed between 2000 and 2025. Seven received mitotane therapy.

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Differentiated thyroid carcinoma (DTC) in pediatric patients has specific clinical, pathological, and molecular characteristics, making its management different from that of adults. Our study aimed to evaluate the outcome and factors associated with persistent disease in a large cohort of pediatric patients. We performed a multicenter retrospective cohort study, including patients aged ≤18 years, diagnosed with a DTC, since January 2000.

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Background: Graves-Basedow disease (GD) is a rare disease in pediatric age and its management is still controversial. Age, goiter size, fT4 and fT3 levels, TRAb titration and the duration of antithyroid drug (ATD) were considered predictors of remission.

Methods: The aim of this retrospective study was to analyze the clinical features at onset of GD and the outcome of the disease in a single-center pediatric cohort.

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Radioactive iodine (RAI) treatment in low-risk pediatric patients with differentiated thyroid cancer (DTC) is still debatable. The objective of this study is to evaluate the outcome of treated and untreated patients in pediatric age. The data of all pediatric patients affected by low-risk category DTC according to ATA (American Thyroid Association) during the period 2010-2024 were reviewed.

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Introduction: Craniopharyngioma (CP), Rathke cleft cyst (RCC), and empty sella (ES) are clinical conditions that may lead to endocrine disorders.

Methods: Clinical data of all pediatric patients aged 0-18 years with diagnosis of CP, RCC, or ES, referred to our department over the period 2000-2024 were analyzed.

Results: Data of 13 subjects with CP, 35 subjects with RCC, and 32 patients with ES were analyzed.

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Background: The management of rare tumors at reference centers with specialized multidisciplinary tumor boards (MTBs) improves patient survival. No international standardized diagnostic and treatment recommendations for pediatric patients with adrenocortical carcinoma (ACC) exist so far. The aim of this case-based study is to determine how congruent treatment recommendations are in different specialized institutions in different countries.

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Therapeutic options of advanced pediatric adrenocortical carcinoma (pACC) are limited, and achieving valuable risk stratification remains challenging. We refined the value of prognostic factors with an emphasis on resection status. Retrospective international data from 106 patients with advanced pACC from various collaborating centers of the international pACC working groups ENSAT-PACT, IC-PACT and/or from individual international collaboration diagnosed were collected.

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Inflammation-based scores have been demonstrated to be independent prognostic factors in predicting outcomes in adult adrenocortical carcinoma (ACC). We aimed to investigate the prognostic role of these scores in pediatric adrenocortical carcinoma (pACC) patients. An international multicenter analysis was conducted on a pediatric cohort from 21 ACC centers.

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Article Synopsis
  • - Hypertensive crises in children are rare and often occur without a prior hypertension diagnosis, potentially linked to underlying issues like pheochromocytoma/paraganglioma (PPGL) that cause catecholamine excess.
  • - The type of catecholamine excess varies by tumor type: noradrenergic tumors typically lead to sustained hypertension, while adrenergic tumors may cause paroxysmal hypertension due to a mix of adrenergic receptor stimulation.
  • - Treatment for these hypertensive crises mainly involves alpha-blockers, and sometimes beta-blockers for tachyarrhythmias, with the administration route depending on whether it's a hypertensive emergency or urgency.
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Background: Atrophic autoimmune thyroiditis (AAT) is a rare phenotype of autoimmune thyroiditis (AT) in pediatric age. AAT occurs without thyroid enlargement leading to a delay in its diagnosis. Growth impairment is infrequent in autoimmune thyroiditis, if timely diagnosed.

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Context: There are only a few nationwide studies on boys with central precocious puberty (CPP) and the last Italian study is a case series of 45 boys that dates back to 2000.

Objective: We aimed to evaluate the causes of CPP in boys diagnosed during the last 2 decades in Italy and the relative frequency of forms with associated central nervous system (CNS) abnormalities on magnetic resonance imaging (MRI) compared to idiopathic ones.

Methods: We performed a national multicenter retrospective study collecting data from 193 otherwise normal healthy boys with a diagnosis of CPP.

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Introduction: There are few data about effects of COVID-19 on thyroid disease presentation in children, due to difficulties in healthcare services access.

Aim Of The Study: To assess the differences in hypothyroidism presentation before and during the COVID-19 pandemic.

Material And Methods: All paediatric patients with autoimmune hypothyroidism (AIT) diagnosed from January 2017 to December 2022 were analysed.

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Objectives: To describe medullary thyroid cancer (MTC) onset in a boy affected previously by Langerhans cell histiocytosis (LCH) and review the literature for other reports of this association.

Case Presentation: A 6-year-old boy was treated for LCH diagnosis when he was 4 years old. After treatment, a rise in procalcitonin levels was observed (2.

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Purpose: In recent years, copeptin stimulation through arginine administration has been evaluated as a new potential tool in the differential diagnosis of polyuria-polydipsia syndrome (PPS) in adults; to date very few data, all retrospective, exist in pediatric age. The aim of this prospective study is to evaluate the diagnostic performance of the arginine-stimulation test for copeptin in a cohort of pediatric patients affected by PPS.

Methods: All children (<18 years) referred to the Department of Pediatric Endocrinology of the Regina Margherita Children Hospital for polyuria-polydipsia in the period January 2021-June 2023 were enrolled.

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Article Synopsis
  • - Perinatal asphyxia significantly contributes to neonatal death and health issues, with therapeutic hypothermia being the standard treatment that reduces mortality and major developmental disabilities.
  • - Endocrine-related problems, such as glucose and electrolyte imbalances or adrenal complications, can arise in infants experiencing perinatal asphyxia, potentially impacting their health outcomes.
  • - Clinicians need to recognize the potential endocrine complications in asphyxiated infants to implement effective screening and timely interventions for improving overall outcomes.
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Article Synopsis
  • Adrenal crisis (AC) is a serious emergency for patients with adrenal insufficiency (AI), and early recognition and treatment in the Emergency Department (ED) are vital for better outcomes.
  • A study analyzed 89 pediatric patients with primary AI (PAI) and central AI (CAI), focusing on admission reasons, lab results, and treatment timing to improve awareness and management strategies.
  • Key findings included that dehydration and inadequate steroid intake were significant factors in developing AC, emphasizing the need for education for families about managing AI conditions effectively at home.
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In children, hypothyroidism usually presents non-specific symptoms; symptoms can emerge gradually, compromising a timely diagnosis. We report the case of a 13-year-old male, who was admitted to the hospital due to swelling of the torso and neck. Besides these symptoms, the child was healthy, except for a significant growth delay.

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Purpose: To describe the clinical features of a paediatric cohort affected by differentiated thyroid cancer (DTC) followed in a tertiary Department of Paediatric Endocrinology.

Methods: Clinical data of 41 patients affected by DTC in the 2000-2020 period were reviewed.

Results: The main risk factor was autoimmune thyroiditis (39%).

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Introduction: Pediatric thyroid carcinoma represents about 4-5% of all pediatric carcinoma with an incidence of 0.5 cases/100,000, compared to 2-10/100000 cases in the adult population. The aim of this study is to present the experience of a reference adult endocrine surgery unit in charge of the treatment of pediatric thyroid diseases.

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Premature infants are at higher risk of developing congenital hypothyroidism (CH) but the neonatal screening strategy for this population is still debatable. The purpose of this retrospective study is to describe the results of a screening program for CH in a preterm infant cohort. All preterm newborns who underwent neonatal screening in the Italian region of Piedmont in the period January 2019-December 2021, were included in this retrospective cohort study.

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Background: Pediatric thyroid nodules have a lower prevalence but a higher rate of malignancy (ROM) than those in adults. Ultrasound features suspected of malignancy lead to fine needle aspiration biopsy (FNAB) and subsequent cytological determination, upon which management is decided. Based on the characteristics of ultrasound, to standardize clinician decisions and avoid unnecessary FNAB, the European Thyroid Association and the American Radiology College have established guidelines for Thyroid Imaging, Reporting and Data System (EU-TIRADS and ACR-TIRADS) for ROM stratification of thyroid nodules.

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Background: The relative high frequency of menstrual irregularities in the first two-three years after menarche may lead to the risk of underestimation of associated pathological conditions, which are always to be accurately researched with careful examination and anamnesis. The association between menstrual irregularities and hypothyroidism is described in literature but the available data are scarce and mainly based on adult case series. It is described that low plasma levels of thyroid hormone can shift the hemostatic system towards a hypocoagulable and hyperfibrinolytic state and seem to lead to an increased bleeding risk.

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Purpose: To date, few data are available on the prognostic role of lymphocyte subsets in pediatric Graves' Disease (GD). The aim of this retrospective study is to analyze the role of lymphocyte subtypes in predicting the severity of GD.

Methods: Data of 10 pediatric subjects aged <18 years with GD onset in the period November 2017-April 2021 were collected.

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The liquid formulation of L-thyroxine is the most used in the substitutive treatment of congenital hypothyroidism (CH). This formulation has higher TSH suppression rates with respect of L-thyroxine tablets and thus lower doses are indicated. Two types of liquid L-thyroxine (Tirosint and Tifactor) are currently approved in Italy for use in pediatric age and to date there are no data available in the Literature comparing the two liquid formulations.

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