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Open AccessThe economic burden of pediatric growth hormone deficiency in Italy: a cost of illness study
Growth hormone deficiency (GHD) is a rare condition with a worldwide prevalence of 1 patient in 4000 to 10,000 live births, placing a significant economic burden on healthcare systems. The aim of this study is...
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Open AccessQuality of life in children and adolescents with growth hormone deficiency and their caregivers: an Italian survey
The aim of this study was to produce evidence on quality of life (QoL) among Italian growth hormone deficiency (GHD) children and adolescents treated with growth hormone (GH) and their parents.
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High 1-h glucose in youths with obesity as marker of prediabetes and cardiovascular risk
Testing 1-h glucose (1HG) concentration during oral glucose tolerance test is cost-effective to identify individuals at risk of incident type 2 diabetes. Aim of the study was to define 1HG cutoffs diagnostic o...
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Multicentric Italian case–control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome
25OHD levels in patients with Prader-Willi Syndrome (PWS), the most frequent cause of genetic obesity with a peculiar fat mass distribution, are still debated. Insulin resistance (IR), Body Mass Index-SDS (BMI...
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Appropriate management of growth hormone deficiency during the age of transition: an Italian Delphi consensus statement
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Efficacy of short-term induction therapy with low-dose testosterone as a diagnostic tool in the workup of delayed growth and puberty in boys
Constitutional delay of growth and puberty (CDGP) represents the most frequent cause of delayed puberty in males, sharing some clinical features with growth hormone deficiency (GHD) and isolated hypogonadotrop...
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Article
MKRN3 circulating levels in Prader–Willi syndrome: a pilot study
Hypogonadism in Prader–Willi syndrome (PWS) is generally attributed to hypothalamic dysfunction or to primary gonadal defect. MKRN3, a maternal imprinted gene located on 15q11.2-q13 region, encodes makorin ring f...
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Mechanisms of acute hypercalcemia in pediatric patients following the interruption of Denosumab
Denosumab is a fully human monoclonal anti-RANK-L antibody that is clinically used to counteract the bone loss induced by exacerbated osteoclast activity. Indeed, its binding to RANK-L prevents the interaction...
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Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype
Multiple factors influence intrauterine growth and lead to low birth sizes. The impact of genetic alterations on both pre- and post-natal growth is still largely unknown. The aim of this study was to investiga...
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Open AccessAutoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous ...
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Exercise-induced GH secretion is related to puberty
Exercise represents a physiological stimulus that initiates the coordinated responses of hypothalamic–pituitary axis and sympathetic nervous system. Aims of the study were: 1) to analyze the response of GH, co...
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Dihydrotestosterone (DHT) rapidly increase after maximal aerobic exercise in healthy males: the lowering effect of phosphodiesterase’s type 5 inhibitors on DHT response to exercise-related stress
Few data exist on dihydrotestosterone (DHT) adaptation to exercise-related stress. The aim of the study was to investigate on serum DHT and other androgens’ responses to acute aerobic exercises, and to verify ...
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Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature
Testicular adrenal rest tumors (TARTs) are benign masses deemed to originate from pluripotent testicular steroidogenic cells that grow under chronic ACTH stimulation. These lesions, occasionally misdiagnosed a...
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Possible role of vitamin D in Covid-19 infection in pediatric population
Covid-19 is a pandemic of unprecedented proportion, whose understanding and management is still under way. In the emergency setting new or available therapies to contrast the spread of COVID-19 are urgently ne...
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The use of prohibited substances for therapeutic reasons in athletes affected by endocrine diseases and disorders: the therapeutic use exemption (TUE) in clinical endocrinology
To protect sporting ethics and athletes’ health, the World Anti-Do** Agency (WADA) produced the World Anti-Do** Code and The Prohibited List of substances and methods forbidden in sports. In accordance wit...
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Wrist circumference is a biomarker of adipose tissue dysfunction and cardiovascular risk in children with obesity
To evaluate the relationship between wrist circumference, markers of adipose dysfunction, and cardiovascular risk in youths with obesity.
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Open AccessX-linked hypophosphatemic rickets: an Italian experts’ opinion survey
X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms ar...
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25OH vitamin D levels in pediatric patients affected by Prader–Willi syndrome
Obesity, insulin resistance, and puberty seem to influence and been inversely associated with 25-hydroxy vitamin D (25OHD) levels. To our knowledge, a study on 25OHD in children and adolescents with Prader–Wil...
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Growth hormone treatment improves final height and nutritional status of children with chronic kidney disease and growth deceleration
Growth retardation is a common complication of chronic kidney disease (CKD) in children. Treatment with recombinant human growth hormone (rhGH) has been used to help short children with CKD to attain a height ...
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Open AccessAdherence in children with growth hormone deficiency treated with r-hGH and the easypod™ device
Poor adherence to recombinant human growth hormone (r-hGH) therapy is associated with reduced growth velocity in children with growth hormone deficiency (GHD). This twelve-month observational study was to asse...