Publications by authors named "Tornese G"

Long-acting growth hormones (LAGHs) represent a significant advancement in the treatment of pediatric growth hormone deficiency (GHD), offering an alternative to daily recombinant human growth hormone (rhGH) therapy. Traditional rhGH treatments, while effective, require daily injections, often leading to poor adherence due to the frequency of dosing, injection pain, and difficulties with storage and travel. In contrast, LAGHs, such as somatrogon, somapacitan, and lonapegsomatropin, are designed for once-weekly administration, improving patient compliance and quality of life.

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Purpose: Omnitrope (a somatropin biosimilar), used to treat growth disturbances, is considered to have a good safety profile in children. Here, we present the analysis of final data of the Italian cohort of the PAtients TReated with Omnitrope (PATRO) Children study.

Methods: This multicenter, open-label, longitudinal, post-marketing surveillance study enrolled eligible children during 2010-2018.

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Aims: Italy is the first country to implement a nationwide Type 1 Diabetes (T1D) screening program aimed at reducing cases of diabetic ketoacidosis and potentially delaying disease progression through early interventions. This study assesses the knowledge, perceptions, and willingness of family pediatricians (FPs) to participate in this program.

Methods: An anonymous online survey was conducted among 113 FPs in the Friuli Venezia Giulia region, an area not included in the initial pilot study.

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Background: Brain magnetic resonance imaging (MRI) is mandatory or highly recommended in many pediatric endocrinological conditions to detect causative anatomic anomalies and rule out neoplastic lesions. However, MRI can also show findings associated with the underlying clinical condition, as well as unrelated "incidentalomas". These latter findings are often abnormalities with a high incidence in the general population for which there is no clear literature regarding their management, especially in pediatric patients.

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Article Synopsis
  • Type 1 diabetes is an autoimmune condition influenced by genetic factors, primarily related to class II genes, but there is growing interest in the role of class I genes in its development.
  • A study involving 115 children and young adults used advanced genetic typing to show that 13% had non-classical haplotypes that increase diabetes risk, differing significantly in immune response and clinical features compared to those with classical haplotypes.
  • Findings suggest that the genetic landscape of type 1 diabetes is more complex than previously understood, indicating potential new strategies for prevention and management of the disease.
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In the post-COVID-19 era, telehealth experience and knowledge must be structured to deliver high-quality care. Type 1 diabetes is a chronic disease that lends itself to being a model for telehealth diffusion, especially in the pediatric setting where the use of cloud-connected technologies is widespread. Here, we present "how to set the tone" and manage a telemedicine session according to our experiences and those reported in the literature, according to the health professional perspective.

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Article Synopsis
  • The Italian Academy of Pediatrics, along with several professional societies, is creating a position paper aimed at providing guidance on standardized support for adolescents with Gender Dysphoria (GD).
  • The treatment approach emphasizes a collaborative process involving families and healthcare professionals, ensuring that care is personalized and evidence-based while addressing individual needs.
  • Establishing accredited multidisciplinary centers is vital to delivering high-quality care and combating discrimination based on gender identity.
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Precocious puberty has traditionally been defined as the onset of secondary sexual characteristics occurring before age 8 years in girls and 9 years in boys. This earlier onset of puberty may have significant physical and psychological consequences if left untreated. Moreover, it should be excluded that pubertal signs are not secondary to malignancies, other organic aetiologies or associated syndromic phenotypes.

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Introduction: It has been proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Only children with a monogenic cause of GHD or an identifiable combined hormonal deficiency or anatomical anomaly in the hypothalamic-pituitary axis should be considered definite GHD (dGHD). The remaining patients can be defined as a separate group of patients, "short stature unresponsive to stimulation tests" (SUS).

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Diet is an essential element of treating and managing type 1 diabetes (T1D). However, limited research has examined food behaviour in children and adolescents with T1D and their relationship to glycaemic control. This study evaluated food behaviour, metabolic characteristics and their impact on the glycaemic control of children and adolescents with T1D.

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Article Synopsis
  • The study evaluated how continuous glucose monitoring (CGM) affects quality of life (QoL) for young people with type 1 diabetes (T1D) and their caregivers, focusing on the relationship between CGM satisfaction and QoL.
  • Researchers used a cross-sectional approach, analyzing responses from 210 youths with T1D and their parents through specific questionnaires that measure QoL and CGM satisfaction.
  • Results indicated that higher satisfaction with CGMs correlated with better QoL across all dimensions, suggesting that enhancing CGM experiences could improve well-being for youths with T1D, regardless of the treatment method used.
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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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Glycemic abnormalities are a frequent finding in pediatric oncological patients, both during treatment and after its discontinuation. Moreover, impaired glucose tolerance (IGT), impaired fasting glycemia (IFG) and diabetes mellitus (DM) are not rarely diagnosed in non-oncological hematological diseases. To explore the current pediatric Italian approach to the diagnosis and the management of the glycemic alterations in this clinical setting and, thus, to identify and enforce current clinical needs, we submitted an online 23-items survey to all the Italian Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) centers, and surveys were descriptively analyzed.

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Background: H Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deforming arthritis, and enlarged lymph nodes.

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: The gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard method for diagnosing central precocious puberty (CPP), although it requires multiple blood samplings over 120 min. This study aimed to evaluate if a shorter test may have an equivalent diagnostic accuracy. : We retrospectively reviewed the GnRH tests of 188 consecutive pediatric patients (169 females) referred for signs of early pubertal development.

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Purpose: MKNR3 is a paternally expressed gene whose mutations are the main cause of central precocious puberty (CPP). Protein circulating levels can be easily measured, as demonstrated in idiopathic CPP and healthy controls. No data are available for patients harboring an MKRN3 mutation.

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Introduction: Girls with early thelarche may show an intermediate clinical picture between isolated premature thelarche (PT) and central precocious puberty (CPP), defined as "thelarche variant" (TV), characterized by an FSH-predominant response, although a univocal definition is lacking.

Methods: Retrospective analysis on 91 girls with early thelarche (<8 years) and advanced bone age and/or accelerated growth who underwent 104 LHRH tests. Patients were classified into CPP (LH peak ≥5 IU/L; n = 28, 31%), TV (FSH peak ≥20 IU/L, LH peak <5 IU/L; n = 15, 16%), or PT (FSH peak <20 IU/L and LH peak <5 IU/L; n = 48, 53%).

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Aims: Continuous glucose monitoring (CGM) can improve glucometrics in children with type 1 diabetes (T1D), and its efficacy is positively related to glucose sensor use for at least 60% of the time. We therefore investigated the relationship between CGM satisfaction as assessed by a robust questionnaire and glucose control in pediatric T1D patients.

Methods: This was a cross-sectional study of children and adolescents with T1D using CGM.

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The HNF1A transcription factor, implicated in the regulation of pancreatic beta cells, as well as in glucose and lipid metabolism, is responsible for type 3 maturity-onset diabetes of the young (MODY3). HNF1A is also involved in increased susceptibility to polygenic forms of diabetes, such as type 2 diabetes (T2D) and gestational diabetes (GD), while its possible role in type 1 diabetes (T1D) is not known. In this study, 277 children and adolescents with T1D and 140 healthy controls were recruited.

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Parents and caregivers may seek help with different questions or concerns on how to handle the diverse gender expressions of their children. Sometimes the issue may be evident while seeking medical advice for other concerns. Because of the many uncertainties around this topic, clinicians need to know what to say and what can be done to provide the best possible care for gender-diverse children.

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Introduction: The purpose of this study was to evaluate lipid profile and kidney function in children and adolescents with Type 1 Diabetes.

Methods: This was a retrospective study including 324 children and adolescents with Type 1 Diabetes (48% females, mean age 13.1 ± 3.

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This Position Statement updates the different components of the therapy of obesity (lifestyle intervention, drugs, and surgery) in children and adolescents, previously reported in the consensus position statement on pediatric obesity of the Italian Society of Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics. Lifestyle intervention is the first step of treatment. In children older than 12 years, pharmacotherapy is the second step, and bariatric surgery is the third one, in selected cases.

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