Publications by authors named "Gaudino Rossella"

Article Synopsis
  • Silver-Russell Syndrome (SRS) is a disorder that leads to growth failure, characteristic physical features, and feeding issues, with significant genetic causes remaining unclear in many cases.
  • The study aimed to assess the genetic variants in undiagnosed SRS patients and determine if (epi)genetic patients show distinct characteristics compared to genetic patients.
  • Findings revealed that only 9.1% of patients had identifiable pathogenic variants, emphasized body asymmetry as a key trait in (epi)genetic SRS, and recommended including IGF1R sequencing in the diagnostic process for SRS.
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  • Precocious puberty (PP) in girls is characterized by breast development before age 8, with a diagnostic procedure using GnRH stimulation to measure LH levels, traditionally with a cutoff of 15 IU/L, but many still showed lower levels.
  • The study aimed to establish a new lower LH threshold of 5 IU/L for earlier diagnosis of central precocious puberty (CPP) and assess other diagnostic parameters.
  • Results indicated that girls with higher LH levels and other indicators, like growth velocity, were more likely to have axis activation, leading to the new proposed LH threshold for better diagnostic accuracy.
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  • 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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Physical activity plays a pivotal role in preventing obesity and cardiovascular risks. The six-minute walk test (6MWT) is a tool to assess functional capacity and predict cardiovascular events. The aim of this cross-sectional study was to compare the performance and haemodynamic parameters before and after a 6MWT between obese/overweight vs.

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Cannabis, a plant known for its recreational use, has gained global attention due to its widespread use and addiction potential. Derived from the plant, it contains a rich array of phytochemicals concentrated in resin-rich trichomes. The main cannabinoids, delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD), interact with CB1 and CB2 receptors, influencing various physiological processes.

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Backgroud: SARS-Cov2 infection began to spread worldwide since December 2019; on March 2020, the World Health Organization characterized its related disease, named COVID-19, as a pandemic. In Italy, to contain the spread of infection a severe lockdown in the spring 2020 was instituted. Other less severe restrictions were imposed in the winter 2020-2021 and in the spring 2021.

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Background: Primary adrenal insufficiency (PAI) in childhood is a life-threatening disease most commonly due to impaired steroidogenesis. Differently from adulthood, autoimmune adrenalitis is a rare condition amongst PAI's main aetiologies and could present as an isolated disorder or as a component of polyglandular syndromes, particularly type 2. As a matter of fact, autoimmune polyglandular syndrome (APS) type 2 consists of the association between autoimmune Addison's disease, type 1 diabetes mellitus and/or Hashimoto's disease.

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Introduction: Infants of mothers with autoimmune hypothyroidism (AH) are at risk of developing late-onset hypothyroidism, often escaping at newborn screening. This condition might be caused both by the action of maternal antibodies and/or by maternal treatment.

Objectives: The aim of this study is to evaluate the prevalence of AH in the mothers of children born in Veneto region, Italy, and to define what is the most appropriate management for these newborns.

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Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on 17-hydroxyprogesterone (17-OHP) concentration in dried blood spots has been taking place in North-Eastern Italy since 2001. Since 2017, liquid chromatography-tandem mass spectrometry (LC-MS/MS) has been introduced, for the first time in Italy, as a second-tier test.

Aims: Our study aims to evaluate, on the one hand, the effectiveness of the newborn screening for CAH after 20 years of testing and, on the other, the impact that the introduction of the second-tier test had on the diagnostic accuracy of the screening program.

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Article Synopsis
  • Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty, but distinguishing it from permanent hypogonadotropic hypogonadism (PHH) can be challenging for pediatricians, which is crucial for proper treatment.
  • Adolescents with CDGP typically have a delayed bone age and may experience growth failure until puberty begins, after which their growth rate significantly increases; thorough evaluation of family history and other health conditions is necessary to identify the underlying cause of delayed puberty.
  • While CDGP is usually viewed as a normal growth variant, its association with short stature and delayed sexual development can lead to psychological issues and affect academic performance, highlighting the importance of timely and accurate diagnoses for better outcomes.
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Background: The causes of an early onset of puberty are still not clearly defined and may vary from subject to subject. In girls, even if 90% of early puberty is idiopathic, magnetic resonance imaging (MRI) of the brain is performed to exclude secondary causes of precocious puberty, in particular pathological lesions as hypothalamic tumours (hamartoma). In some cases, other intracranial lesions are considered as incidental findings.

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  • GNAS is a complex gene that encodes the Gsα protein, which is involved in triggering various signaling pathways; mutations can either reduce or activate its function, leading to different hormonal disorders.
  • A case study of a girl with a new heterozygous GNAS variant revealed a 50% reduction in Gsα activity, inherited from her mother, along with a series of clinical symptoms indicating a multisystem disorder.
  • The newly identified mutation (c.166A > T) is linked to this disorder and presents a uniquely mild functional impairment of the Gsα protein despite its reduced activity, marking the first report of this variant's association with such a condition.
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Suprasellar arachnoid cysts represent a rare occurrence in the pediatric population and usually cause symptoms related to mass effect and can occasionally cause endocrine dysfunctions. The association between SAC and the syndrome of inappropriate antidiuretic hormone (SIADH) in the pediatric population has rarely been described previously. In most cases, SIADH is temporary and resolves by treating the underlying cause.

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In early 2020, a novel coronavirus leading to potentially death was discovered. Since then, the 2019 coronavirus disease (COVID-19) has spread to become a worldwide pandemic. Beyond the risks strictly related to the infection, concerns have been expressed for the endocrinological impact that COVID-19 may have, especially in vulnerable individuals with pre-existing endocrinological health conditions.

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Background: Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1).

Case Presentation: We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty.

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Background: Growth monitoring is an essential part of primary health care in children and short stature is frequently regarded as a relatively early sign of poor health. The association of short stature and dysmorphic features should always lead to exclude an underlying syndromic disorder.

Case Presentation: We report the case of an Indian school-aged boy with dysmorphic features, intellectual disability and a clinical history characterized by seizures and hearing problems.

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Background: The term premature pubarche (PP) refers to the appearance of pubic hair before age 8 in girls and before age 9 in boys. Although idiopathic PP (often associated with premature adrenarche) is considered an extreme variation from the norm, it may be an initial sign of persistent hyperandrogenism. Factors contributing to PP onset and progression have not been identified to date.

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Objective: Age at menarche (AAM) is an important indicator of physiological development in women, and delayed AAM has been associated with chronic illnesses. We investigated predictive factors at diagnosis that influence AAM in adolescents with chronic respiratory diseases.

Study Design: AAM was assessed in 1207 northern Italian female aged 11-24 (1062 healthy, 98 with asthma and 47 with cystic fibrosis [CF]).

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Background: Childhood obesity is becoming a major health issue and contributes to increasing the risk of cardiovascular disease in adulthood. Since dysregulated metabolism of bile acids (BAs) plays a role in progression of obesity-related disorders, including steatosis and hypertension, this study aimed to investigate BAs profiles in obese children with and without steatosis and hypertension, as well as exploring the interplay between BAs profile and vascular function.

Methods: BAs concentrations were quantified with liquid chromatography-tandem mass spectrometry in 69 overweight/obese children and adolescents (mean age, 11.

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In previous studies, dietary and circulating fatty acids (FA) and desaturases activity (delta-5 desaturase [D5D], delta-6 desaturase [D6D], and stearoyl-CoA desaturase [SCD-16]) involved in their metabolism were associated with metabolic and cardiovascular disorders. The aim of the study was to assess the association between different FAs and desaturases activity (estimated as product:precursor ratios) with individual cardiovascular risk factors (in particular, anthropometric measurements and blood pressure [BP]) in children. The FA profile was determined on a whole-blood drop in 243 children (age: 8.

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The use of intravenous bisphosphonates has been linked to hypocalcemia both in children and adults with osteogenesis imperfecta (OI). The aims of this study were: (1) to investigate the incidence of hypocalcemia in the first 48 hours (T48) after neridronate infusion in a pediatric population with OI and (2) to assess any correlation between the baseline values of calcium, vitamin D (25-hydroxyvitamin D) and bone turnover markers, and the postinfusion calcium values. We conducted a prospective observational study on 37 pediatric patients.

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Objectives: To report the frequency and characteristics of growth hormone (GH) deficiency (GHD) in adolescents who had normalized GH secretion at mid-puberty and to identify possible factors predictive for GH sufficiency at puberty.

Design: Clinical analysis of children affected by GHD at five time points: diagnosis; first year of therapy; intermediate stage of puberty; retesting and end of growth phase.

Methods: The study population was 80 children with idiopathic GHD and treated with GH for at least 2 years.

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In early 2020, a novel coronavirus (SARS-CoV-2) leading to a potentially fatal condition was discovered. Since then, the 2019 coronavirus disease (COVID-19) has spread worldwide becoming a pandemic. Beyond the risks strictly related to the infection, concerns have been expressed for the psychological impact that COVID-19 may have, especially on vulnerable individuals with pre-existing mental health conditions.

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