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This longitudinal population-based study analyses the frequency of diabetic ketoacidosis (DKA) at type 1 diabetes diagnosis in Italian children under 15 years of age, during 2004–2013. DKA was defined as absent (pH ≥ 7.30), mild/moderate (7.1 ≤ pH

Background: To limit the spread of coronavirus disease 2019 (COVID-19), governments have ordered a series of restrictions that may affect glycemic control in individuals with type 1 diabetes mellitus (T1DM), since physical activity (PA) was not allowed outside home. Methods: We retrospectively evaluated glycemic control of individuals with T1DM using hybrid closed loop (HCL) system in the period before the SARS-CoV-2 outbreak in Italy (February 10-23, 2020-Time 1), when movements were only reduced (February 24-March 8, 2020-Time 2) and during complete lockdown (March 9-22, 2020-Time 3). Information about regular PA (at least 3 h per week) prior and during the quarantine was collected. Results: The study included 13 individuals with a median age of 14.2 years and a good glycemic control at baseline (glucose management indicator of 7%, time in range [TIR] of 68%, time below range [TBR] of 2%). All individuals continued to show good glycemic control throughout the study period. There was an increase in TIR during the study period (+3%) and TIR was significantly higher during Time 3 (72%) than during Time 2 (66%). TBR was significantly lower during Time 3 (1%) both compared with Time 1 and Time 2 (2%). A meaningful variance in TIR at Time 3 between individuals who performed or not PA during quarantine and a significant increase in TIR between Time 2 and Time 3 in individuals both doing PA at baseline and during quarantine was found. At logistic regression, only the presence of PA during quarantine significantly predicted a TIR >70%. Conclusions: Glycemic control of T1DM in adolescents using HCL system did not worsen during the restrictions due to COVID-19 pandemics and further improved in those who continued PA during the quarantine. Maintaining regular PA in a safe home environment is an essential strategy for young individuals with T1DM during the COVID-19 crisis.

Background While several studies have been published so far on the effect of COVID-19 pandemic on health care for non-COVID-19 diseases, to date no study evaluated the impact of the COVID-19 pandemic on the entire field of pediatric endocrinology. This study aimed to evaluate differences in pediatric endocrine stimulation tests after the advent of COVID-19 pandemics. Methods Retrospective study with data collection for pediatric endocrine stimulation tests performed in 2019 and 2020 in a tertiary center. Results Overall, 251 tests were performed on 190 patients in 2020, compared to 278 tests on 206 patients in 2019 (− 10% tests; − 8% children evaluated). A significant reduction was found in tests to diagnose growth hormone deficiency (GHD) (− 35%), while LHRH tests increased (+ 22%). A reduction of 30% in GHD diagnosis was observed. Central precocious puberty (CPP) diagnosis increased by 38% compared to 2019, mainly in females. Conclusion This study found a significant reduction of tests investigating GHD during COVID-19 pandemics. It also showed a clinically meaningful increase in cases of CPP in girls. These results suggest the need for families and pediatricians to monitor children’s growth during isolation and enlighten new perspectives towards conditions associated with lockdown restrictions as increased screen time, social isolation, and children’s anxiety as possible triggers of CPP.

OBJECTIVE: To evaluate glucose metabolism and insulin sensitivity in children with idiopathic growth hormone (GH) deficiency treated with recombinant human GH (rhGH) and to identify possible risk factors for the development of glucose abnormalities in this population. METHODS: We retrospectively collected data from 101 patients (60 males, median age 10.4 years, 77 prepubertal), with confirmed GH deficiency, enrolled before starting rhGH and followed up for the first three years of treatment. Glucose metabolism was evaluated every year by oral glucose tolerance test (OGTT) and glycated hemoglobin (HbA1c). OGTT was used to calculate insulin sensitivity (HOMA-S) and insulin resistance (HOMA-IR), defined as HOMA-IR>3. RESULTS: RhGH was effective in improving growth and its dosage was significantly reduced after the first year of therapy. No patient developed diabetes mellitus. After one year of therapy, a significant increase in HbA1c (p=0.0042) and insulin levels (fasting p

IntroductionPediatric endocrinology rely greatly on hormone stimulation tests which demand time, money and effort. The knowledge of the pattern of pediatric endocrinology stimulation tests is therefore crucial to optimize resources and guide public health interventions. Aim of the study was to investigate the distribution of endocrine stimulation tests and the prevalence of pathological findings over a year and to explore whether single basal hormone concentrations could have saved unnecessary stimulation tests.MethodsRetrospective study with data collection for pediatric endocrine stimulation tests performed in 2019 in a tertiary center.ResultsOverall, 278 tests were performed on 206 patients. The most performed test was arginine tolerance test (34%), followed by LHRH test (24%) and standard dose Synachthen test (19%), while the higher rate of pathological response was found in insulin tolerance test to detect growth hormone deficiency (81%), LHRH test to detect central precocious puberty (50%) and arginine tolerance test (41%). No cases of non-classical-congenital adrenal hyperplasia were diagnosed. While 29% of growth hormone deficient children who performed an insulin tolerance test had a pathological peak cortisol, none of them had central adrenal insufficiency confirmed at low dose Synacthen test. The use of basal hormone determinations could save up to 88% of standard dose Synachthen tests, 82% of arginine tolerance + GHRH test, 61% of LHRH test, 12% of tests for adrenal secretion.ConclusionThe use of single basal hormone concentrations could spare up to half of the tests, saving from 32,000 to 79,000 euros in 1 year. Apart from basal cortisol level

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IntroductionThe purpose of this study was to assess the effectiveness of advanced- (a-HCL) vs. standard-hybrid closed-loop (s-HCL) systems use up to 6 months of treatment in a real-world setting of children and adolescents with T1DM.MethodsWe retrospectively evaluated all T1DM pediatric users of MiniMed™ 670G system (s-HCL) and 780G system (a-HCL). HbA1c and BMI were collected at baseline and three and six months after HCL start. Data on glycemic control were extracted from reports generated with CareLink™ Personal Software in Manual Mode, at HCL start, after one, three, and six months after HCL beginning.ResultsThe study included 44 individuals with a median age of 13.3 years (range 2- 21 years), 20 on s-HCL, and 24 on a-HCL. a-HCL users had a significantly lower HbA1c compared to s-HCL after six months of HCL use (7.1 vs. 7.7%). Significant differences in HbA1c between a-HCL and s-HCL users were found in children aged 7-14 years (7.1 vs. 7.7% after six months) and in those with a worse (HbA1c >8%) glycemic control at the beginning (7.1 vs. 8.1% after six months). No significant changes in HbA1c were found in a-HCL users that previously used a s-HCL system. Nevertheless, only the use of a-HCL significantly predicted a lower HbA1c after six months. All sensor-specific measures of glycemic control improved from Manual to Auto mode, in both s-HCL and a-HCL, without increasing time spent in hypoglycemia. However, the percentage of individuals with TIR>70% increased significantly in a-HCL users, who attained this target earlier and more stably: younger age, a higher rate of auto-correction, and a lower amount of CHO inserted predicted a TIR>70%. BMI SDS did not significantly change throughout the study period.ConclusionThis real-world study suggests that effectiveness might be greater in a-HCL than in s-HCL, with significant changes in HbA1c, and reaching earlier and more stably the target of TIR >70%, without increasing hypoglycemia or BMI. At the same time, previous users of s-HCL systems did not show any further improvement with a-HCL. Children under the age of 14 years of age, not represented in previous studies, seem to benefit the most from a-HCL pumps as well as individuals with the worst glycemic control.

Short stature is a common referral in paediatric endocrinology. The role of the target height (TH) is fundamental in its diagnostic management. In order to investigate for growth hormone deficiency (GHD), one of the clinical criteria in several guidelines is a height

Introduction: The knowledge of the pattern and the features of pediatric endocrinology referrals is crucial to optimize resources and guide public health interventions. We explored the numbers and the reasons for referral to a pediatric endocrinology outpatient clinic and investigated their features in terms of assignment of priority ranks, sex, age differences, the prevalence of pathological findings among referred cases, and the agreement among referrals, final diagnosis, treatment, and follow-up.Methods: Retrospective study with data collection for pediatric endocrinology first visits between November 2012 and February 2019 in a tertiary center.Results: A total of 1930 first visits were performed with an overall number of referrals of 2,165, and an increasing trend over the years. The most frequent referral reasons were slow growth, precocious puberty, and obesity; 14% of visits were classified as “urgent” (

Background Growth failure and growth hormone deficiency (GHD) have been reported as one accessory feature of GLUT1 deficiency syndrome (GLUT1DS), considered so far as a long-term adverse effects of ketogenic diet which is used to treat this condition. Case presentation We report the case of a 10-year-old Caucasian boy referred for short stature (height − 2.56 SDS) and delayed growth (growth velocity − 4.33 SDS) who was diagnosed with GHD and started treatment with recombinant human growth hormone (rhGH). Because of his history of seizures with infantile onset, deceleration of head growth with microcephaly, ataxia, and moderate intellectual disability, a lumbar puncture was performed, which revealed a low CSF glucose concentration with a very low CSF-to-blood glucose ratio (SLC2A1 gene exon 1 deletion confirming a diagnosis of GLUT1DS. Ketogenic diet was started. After 5.5 years of rhGH treatment his height was normalized (− 1.15 SDS). No side effects were reported during treatment, particularly on glycemic metabolism. Conclusions This is the first case of GHD in a Caucasian boy with GLUT1DS diagnosed before starting ketogenic diet, with a good response to rhGH treatment and absence of side effects. We speculate that GHD may represent a poorly recognized clinical feature of GLUT1DS rather than a complication due to ketogenic diet. Under-diagnosis may derive from the fact that growth failure is usually ascribed to ketogenic diet and therefore not further investigated. Pediatric neurologists need to be alerted to the possible presence of GHD in patients with GLUT1DS with slow growth, while pediatric endocrinologist need to refer GHD patients with additional features (motor and cognitive developmental delay, seizures with infantile onset, deceleration of head growth with acquired microcephaly, movement disorder with ataxia, dystonia, and spasticity) that may suggest GLUT1DS.

Background The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess. Case report We report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step. Conclusion In a boy with CAH and small testicular volume, it’s important to consider that hypogonadism may be masked by the adrenal androgens excess and a karyotype should be performed once testicular adrenal rests have been ruled out.

A girl aged 4 years and 3 months presented to our department for a right breast mass, slowly enlarging since the age of 6 months (figure 1). The mass was tender at the outer and harder at the medial quadrants to palpation, with apparently regular margins. The nipple over the mass was not altered. Figure 1 Right breast swelling without alteration of the skin or nipple. MRI showed a diffuse …

Congenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, followed by partial pancreatectomy, which is often not resolutive. Sirolimus, a mammalian target of rapamycin inhibitor, was reported to be effective in treating CHI in infants. We report here the case of an 8-year-old boy affected by a severe form of CHI due to a biallelic heterozygous ABCC8 mutation who responded to sirolimus with a dramatic improvement in his glucose blood level regulation and quality of life, with no serious adverse events after 6 months of follow-up. To the best of our knowledge, this is the first report of a successful intervention in an older child. It provides a promising basis for further studies comparing sirolimus with other treatments, particularly in older children.

Even though no increased recurrence rate seems to be reported in patients with brain tumors receiving recombinant human growth hormone (rhGH) replacement, in some patients multiple risk factors could put at higher risk for recurrence. In such cases, the decision to start rhGH therapy should be very cautious. A boy with neurofibromatosis type 1 developed an atypical teratoid/rhabdoid tumor (AT/RT) of right cerebellum, treated with surgery, radiotherapy, and chemotherapy. After 3 years of remission, he started rhGH for growth hormone deficiency, having a negative magnetic resonance imaging (MRI) scan. Ten weeks after starting therapy, the boy became symptomatic and MRI showed relapse of AT/RT in the right cerebellum and a new lesion in the brainstem. The boy died of progressive disease. In this case, the connection between AT/RT recurrence and the beginning of rhGH therapy, with a negative pretreatment MRI, cannot be excluded. Additional caution should be used for rhGH in patients with multiple risk factors.

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