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1.
Horm Metab Res ; 56(3): 181-192, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37673081

RESUMEN

As an increased body of COVID-19 related research is now available, it becomes apparent that the effects of COVID-19 extend beyond that of the respiratory system. Among others, the endocrine system is particularly vulnerable to perturbation from the COVID-19 infection. The present scoping review summarizes the bidirectional relationship between COVID-19 and endocrine system in children and adolescents, by describing both the possible susceptibility of children and adolescents without endocrinopathies to endocrine disorders following COVID-19 infection, but also the potential susceptibility to COVID-19 infection and severe infection, or the aggravation of endocrine dysfunction in patients with pre-existing endocrine diseases. Data suggest increased obesity and diabetes rates, as well as increased severity and frequency of diabetic ketoacidosis following COVID-19 infection. Conversely, patients with diabetes and obesity may experience a more severe course of COVID-19 infection. However, in the majority of cases, children and adolescents with well-managed and regulated endocrine disorders do not appear to be at increased risk of infection or severe infection from COVID-19. Thus, adhering to the appropriate "sick day management rules", maintaining adequate supply of medications and supplies, keeping close contact with the therapeutic team and seeking medical help without delay when needed, are the main recommendations for a safe outcome. Additional lessons learnt during the pandemic include the risk for mental health diseases caused by children's disrupted routine due to COVID-19 related protective measures and the importance of adopting alternative communication options, such as telehealth visits, in order to ensure uninterrupted endocrine care.


Asunto(s)
COVID-19 , Diabetes Mellitus , Trastornos Mentales , Adolescente , Humanos , Niño , COVID-19/complicaciones , COVID-19/epidemiología , Pandemias , Trastornos Mentales/epidemiología , Obesidad
2.
Eur J Pediatr ; 183(5): 2383-2389, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38448612

RESUMEN

Pediatric obesity and type 1 diabetes mellitus (T1DM) represent two common chronic diseases associated with chronic inflammation, endothelial dysfunction and long-term complications. The aim of the present study was to assess the possible diagnostic and prognostic value of soluble urokinase plasminogen activator receptor (suPAR), a marker of inflammation and impaired endothelial function, in children with the diseases. In this cross-sectional study, children and adolescents with T1DM (N = 41) or obesity (N = 37), aged < 18 years old, and without proteinuria were included, together with children of similar age and without evident morbidity that served as controls (N = 42). Serum samples were obtained during standard outpatient follow up and the urokinase-type plasminogen activator receptor (suPAR) concentrations were measured using a commercially available sandwich ELISA kit (DUP00, R&D systems). Clinical and biochemical indices that were also assessed include body mass index (BMI) z-score, Tanner stages, glycosylated haemoglobin (HbA1c), fasting lipid profile and serum creatinine. Mean serum suPAR levels were significantly higher in patients with obesity compared to patients with T1DM and controls, while children with T1DM had similar suPAR levels to controls. Also, serum suPAR levels showed a negative correlation with age (Spearman rho -0.359, p < 0.001) and serum creatinine levels (Spearman rho -0.334, p = 0.005), and a positive correlation with BMI z-score (Spearman rho 0.354, p = 0.009) in the whole cohort.  Conclusion: Serum suPAR may be a useful predictive marker of inflammation or endothelial dysfunction for children with obesity and T1DM, as well as a promising therapeutic target. Further studies are needed in order to clarify whether the reported differences in suPAR levels could reflect a greater impairment of the inflammation status and endothelial function in children with obesity compared to children with T1DM. What is Known: • Paediatric obesity and type 1 diabetes are characterised by chronic inflammation and metabolic dysregulation. • Urokinase plasminogen activator receptor (uPAR) has been proposed as a useful biomarker for chronic inflammation and cardiovascular risk in adults. What is New: • Serum suPAR levels were increased in children and adolescents with obesity compared to those with T1DM and healthy controls; thus, obesity may affect the inflammatory status and endothelial function to a higher degree than T1DM during childhood. • Serum suPAR may serve as a diagnostic and predictive marker of inflammation and endothelial dysfunction for children and adolescents with obesity and T1DM.


Asunto(s)
Biomarcadores , Diabetes Mellitus Tipo 1 , Endotelio Vascular , Obesidad Infantil , Receptores del Activador de Plasminógeno Tipo Uroquinasa , Humanos , Estudios Transversales , Niño , Receptores del Activador de Plasminógeno Tipo Uroquinasa/sangre , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/fisiopatología , Masculino , Biomarcadores/sangre , Femenino , Adolescente , Obesidad Infantil/sangre , Obesidad Infantil/complicaciones , Endotelio Vascular/fisiopatología , Estudios de Casos y Controles , Preescolar
3.
Diabet Med ; 40(7): e15114, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37052607

RESUMEN

AIMS: Study aims: (1) developing and validating a novel questionnaire for measuring fear of hyperglycaemia among parents of children with type 1 diabetes (T1D) - the Hyperglycaemia Fear Survey - Parent version (FoHyper-P); (2) investigating correlations between parental fear of hyperglycaemia and objective measures of glycaemic control. METHODS: A multi-centre, multinational study of 152 parents of children with T1D was conducted in three large diabetes clinics from Israel, Poland, and Greece. Inclusion criteria were parents of children aged 6-16 years, at least 6 months from diagnosis, at least 3 months of CGM use and parental involvement in care. Parents filled the FoHyper-P and the Hypoglycaemia Fear Survey - Parent Version (HFS-P). Patient data were obtained via electronic medical records and informative questionnaires. Bonferroni correction was performed to counteract multiple comparisons. RESULTS: Significant strong-moderate correlations were found between FoHyper-P and HFS-P including total questionnaires scoring (r = 0.747, pBonf < 0.001), worries subscales (r = 0.735, pBonf <0.001), and behaviour subscales (r = 0.532, pBonf <0.001). Using linear regression models, we found a positive association between the worry subscale and HbA1C. Weak correlations (p < 0.05, not significant after Bonferroni correction) were found between time in range, time above range and parental fear of hyperglycaemia as well as between worry subscales and a higher HbA1C in the past year, percent of hyperglycaemia and lower TIR. CONCLUSIONS: The FoHyper-P is a novel, validated tool for assessing parental fear of hyperglycaemia. Integrating it into clinical practice addresses an underestimated aspect of parental diabetes management, enabling better care for children with T1D.


Asunto(s)
Diabetes Mellitus Tipo 1 , Hiperglucemia , Hipoglucemia , Niño , Humanos , Hiperglucemia/prevención & control , Hemoglobina Glucada , Miedo , Hipoglucemia/prevención & control , Padres
4.
Eur J Pediatr ; 182(6): 2459-2469, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36939878

RESUMEN

A significant increase in pornography use has been reported in the adolescent population worldwide over the past few years, with intensification of the phenomenon during the COVID-19 pandemic. The aim of the present review is to provide data on the frequency of pornography consumption among adolescents during the pandemic and raise awareness about its potential impact on personal beliefs and sexual attitudes in the long term. A comprehensive literature review was performed in two scientific databases using the crossmatch of the terms "pornography", "adolescents" and "COVID-19". A significant increase in pornography consumption in adolescents was documented during the COVID-19 pandemic as a result of social detachment. Fulfilment of sexual desires in the context of social distancing, alleviation of COVID-19-related boredom and psychological strain, and coping with negative emotions are some of the reported reasons for increased pornography use during the pandemic. However, concerns have been raised in the literature regarding potentially negative effects of excessive pornography use from an early age, including the development of pornography addiction, sexual dissatisfaction and aggressive sexual attitudes reinforced by gender preoccupations and sexual inequality beliefs. CONCLUSION: The extent to which increased pornography consumption from an early age during the COVID-19 pandemic may have affected adolescents' mental well-being, personality construction and sexual behaviour is yet to be seen. Vigilance from the society as a whole is required so that potential negative adverse effects of adolescent pornography use and potential social implications are recognized early and managed. Further research is needed so that the full impact of the COVID-19-related pornography use in the adolescent population is revealed. WHAT IS KNOWN: •A significant increase in pornography consumption has been documented in the adolescent population worldwide over the past decades due to its quick, affordable and easy access from electronic devices and the possibility of anonymous and private participation. •During the COVID-19 pandemic, this phenomenon was intensified as a coping mechanism to social isolation and increased psychosocial strain. WHAT IS NEW: •Concerns have been raised regarding the risk of pornography addiction in adolescents during the COVID-19 pandemic, making the post-pandemic adaptation challenging. •Awareness is raised in parents, health care providers and policy makers about the potential negative impacts of pornography consumption from an early, vulnerable age, such as sexual dissatisfaction and development of aggressive sexual attitudes and sex inequality beliefs.


Asunto(s)
COVID-19 , Pandemias , Humanos , Adolescente , COVID-19/epidemiología , Conducta Sexual/psicología , Actitud , Emociones
5.
Int J Mol Sci ; 24(22)2023 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-38003707

RESUMEN

Oxidative stress and apoptosis are involved in the pathogenesis of obesity-related diseases. This observational study investigates the antioxidant and apoptotic markers response to an oral glucose tolerance test (OGTT) in a population of overweight children and adolescents, with normal (NGT) or impaired glucose tolerance (IGT). Glucose, insulin, and C-peptide concentrations, as well as oxidative stress (SOD, GPx3) and apoptotic markers (Apo1fas, cck18), were determined at T = 0, 30, 60, 90, 120, and 180 min after glucose intake during OGTT. The lipid profile, thyroid function, insulin-like growth factor1, leptin, ghrelin, and adiponectin were also measured at baseline. The 45 participants, with a mean age of 12.15 (±2.3) years old, were divided into two subcategories: those with NGΤ (n = 31) and those with IGT (n = 14). The area under the curve (AUC) of glucose, insulin, and C-peptide was greater in children with IGT; however, only glucose differences were statistically significant. SOD and GPx3 levels were higher at all time points in the IGT children. Apo1fas and cck18 levels were higher in the NGT children at most time points, whereas Adiponectin was lower in the IGT group. Glucose increased during an OGTT accompanied by a simultaneous increase in antioxidant factors, which may reflect a compensatory mechanism against the impending increase in oxidative stress in children with IGT.


Asunto(s)
Intolerancia a la Glucosa , Resistencia a la Insulina , Humanos , Adolescente , Niño , Prueba de Tolerancia a la Glucosa , Antioxidantes , Glucemia , Péptido C , Adiponectina , Resistencia a la Insulina/fisiología , Glucosa , Insulina , Obesidad , Aumento de Peso , Superóxido Dismutasa
6.
Clin Endocrinol (Oxf) ; 96(2): 107-113, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34370339

RESUMEN

Diazoxide is the first-line treatment in children with hyperinsulinaemic hypoglycaemia (HH); however, limited information is available on the duration of diazoxide treatment in children who require over 2 years of it. Hence, we retrospectively reviewed the clinical and biochemical aspects, as well as the duration of therapy and neurodevelopmental assessment, in genetically uncharacterised diazoxide-responsive HH patients admitted to a tertiary hospital over the last 16 years, who had successfully discontinued diazoxide and remained euglycaemic. To exclude transient HH forms, only patients that required diazoxide for over 2 years were studied. We identified a total of 17 patients (70% males), in whom HH was diagnosed between 1 day and 18 months of age, and 88% were born at term with a median birth weight of 3.79 kg. All children responded to diazoxide at a median dose of 11.5 mg/kg/day, and it was stopped at a median age of 8.5 years, with a median duration of therapy of 7.25 years. The cases that required diazoxide the longest manifested no specific biochemical or clinical characteristics. Fasting tests performed after diazoxide discontinuation showed no longer requirement of diazoxide in all the cases. A total of 64.7% of the children showed mild to moderate developmental delay. Therefore, it seems that long-term resolution of HH in children with negative genetics for KATP channel genes who required diazoxide for over 2 years will ensue, and thus regular evaluation is crucial. The possible molecular mechanisms involved are unclear.


Asunto(s)
Hiperinsulinismo Congénito , Diazóxido , Adenosina Trifosfato , Niño , Hiperinsulinismo Congénito/tratamiento farmacológico , Hiperinsulinismo Congénito/genética , Diazóxido/uso terapéutico , Femenino , Humanos , Masculino , Estudios Retrospectivos
7.
Pediatr Res ; 91(5): 1257-1262, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34718355

RESUMEN

BACKGROUND: The number of paediatric emergency department (ED) visits and hospital admissions was recorded in a tertiary referral centre during the first year of the COVID-19, March 2020-February 2021, and compared with those of the preceding year. METHODS: The number of visits and admissions and the reason of visit and admission were prospectively recorded from 15,087 patients' files. RESULTS: A substantial decline in the total number of visits and increase in the admission rate were documented during the COVID-19 year compared to the preceding year (10691 vs 4396 patients, 22.59% vs 18.15% (OR: 1.316, CI 95%: 1.208-2.242, p < 0.0001), respectively). Fever and/or respiratory symptoms were the commonest reported symptoms in both periods. Possible explanations include: (i) restricted overall infection transmission due to confinement and self-protective measures, (ii) avoidance of unnecessary hospital visits in the absence of severe symptoms and (iii) reduced or delayed access to medical care due to parental fear of children's exposure to COVID-19. CONCLUSION: This study is the first worldwide to investigate the impact of COVID-19 on ED visits and admissions throughout the whole year of the pandemic, and to highlight the need for re-evaluation of future protective strategies to infections, adjustment of health-care systems and parental education so that medical care in a health-care setting is sought in a more appropriate manner. IMPACT: A significant decline in paediatric ED visits and increase in the admission rate was observed during the first year of COVID-19 in a tertiary referral centre, possibly due to reduced overall infection transmission, limited ED overuse, but also ED underuse due to parental fear of children's exposure to SARS-CoV-2. COVID-19 may serve as an opportunity for societies to re-evaluate future strategies to infections, adjust health-care systems accordingly, and reinforce parents to seek medical care more appropriately. Although the incidence of critical illness in children due to COVID-19 and in general is low, special attention should be devoted to identifying children at risk early.


Asunto(s)
COVID-19 , COVID-19/epidemiología , Niño , Servicio de Urgencia en Hospital , Humanos , Pandemias , Estudios Retrospectivos , SARS-CoV-2
8.
Clin Endocrinol (Oxf) ; 94(3): 399-412, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33345357

RESUMEN

OBJECTIVE: Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways that regulate insulin release. Syndromic conditions like Beckwith-Wiedemann (BWS), Kabuki (KS) and Turner (TS) are known to be associated with a higher risk for HH. This systematic review of children with HH referred to a tertiary centre aims at estimating the frequency of a syndromic/multisystem condition to help address stratification of genetic analysis in infants with HH. METHODS: We performed a retrospective study of 69 patients with syndromic features and hypoglycaemia in a specialist centre from 2004 to 2018. RESULTS: Biochemical investigations confirmed HH in all the cases and several genetic diagnoses were established. Responsiveness to medications and the final outcome following medical treatment or surgery were studied. CONCLUSIONS: This study highlights the association of HH with a wide spectrum of syndromic diagnoses and that children with features suggestive of HH-associated syndromes should be monitored for hypoglycaemia. If hypoglycaemia is documented, they should also be screened for possible HH. Our data indicate that most syndromic forms of HH are diazoxide-responsive and that HH resolves over time; however, a significant percentage continues to require medications years after the onset of the disease. Early diagnosis of hyperinsulinism and initiation of treatment is important for preventing hypoglycaemic brain injury and intellectual disability.


Asunto(s)
Hiperinsulinismo Congénito , Niño , Hiperinsulinismo Congénito/tratamiento farmacológico , Hiperinsulinismo Congénito/genética , Diazóxido/uso terapéutico , Estudios de Seguimiento , Humanos , Lactante , Estudios Retrospectivos , Síndrome
9.
Pediatr Res ; 89(3): 574-578, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-32320992

RESUMEN

BACKGROUND: A positive correlation between T1DM onset and winter has been suggested by several studies. We investigated the seasonal variation of T1DM diagnosis and epidemiological parameters in children from Western Greece with T1DM. METHODS: One hundred and five patients, 44 males, aged 1-16 years were studied. The month of the diagnosis, the order of birth, gestational age, birth weight, the mode of delivery, parental age and pubertal status were recorded from the patients' files. RESULTS: The mean age at diagnosis was 8.1 ± 4.0 years. The majority of the studied patients were diagnosed during the period of October-March. The majority were born at full term, 11.7% were preterm babies and 52.3% were first born. The mean birth weight was 3266 ± 596 g. 60% were born by vaginal delivery. The majority of the patients were prepubertal at diagnosis. CONCLUSIONS: Our results are in agreement with the reported seasonal variation of T1DM onset in other regions of Greece and Europe. The positive correlation between T1DM presentation and colder temperatures may be explained by factors such as viral infections. This is the first report on epidemiological parameters that may be related to T1DM presentation in Western Greece. The study of such parameters extends the understanding on the disease as a whole. IMPACT: A seasonality of the T1DM diagnosis is shown, with a predominance of the colder months of the year. This is in agreement with previous reports from other countries. Our findings confirm previously reported data and add to the existing knowledge on T1DM in general. Additionally, this is one of the few reports on the incidence and epidemiology of T1DM in Greece and the first in the region of Western Greece. Safer and more accurate conclusions can be drawn with regards to the possible causes and predisposing factors of T1DM by the assessment of statistical data from different populations throughout the world. This offers a better understanding of T1DM and may also contribute to the identification of factors that may reduce the incidence of the disease in the future.


Asunto(s)
Diabetes Mellitus Tipo 1/epidemiología , Estaciones del Año , Temperatura , Adolescente , Niño , Preescolar , Clima , Femenino , Edad Gestacional , Grecia , Humanos , Incidencia , Lactante , Masculino
10.
Pediatr Diabetes ; 22(8): 1135-1142, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34633133

RESUMEN

BACKGROUND: Type 1 diabetes mellitus (DM1), a chronic metabolic disorder of autoimmune origin, has been associated with oxidative stress (OS), which plays a central role in the onset, progression, and long-term complications of DM1. The markers of OS lipid peroxidation products, lipid hydroperoxides (LOOH), and also malondialdehyde (MDA) and thiobarbituric reactive substances (TBARS) that oxidatively modify proteins (Pr) (i.e., PrMDA and PrTBARS, respectively), have been associated with DM2, DM1, diabetic neuropathy, and microalbuminuria. OBJECTIVE/SUBJECTS: Here, we investigated LOOH, PrMDA and PrTBARS in 50 children and adolescents with DM1 and 21 controls. RESULTS: The novel OS marker PrTBARS was assessed for the first time in children and adolescents with DM1. LOOH and the pair PrMDA/PrTBARS, representing early and late peroxidation stages, respectively, are found to be significantly higher (130%, 50/90%, respectively, at p < 0.001) in patients with DM1 compared to controls. The studied OS parameters did not differ with age, age at diagnosis, sex, duration of DM1, presence of recent ketosis/ketoacidosis, or mode of treatment. CONCLUSIONS: We propose that LOOH, PrMDA and the new marker PrTBARS could serve as potential diagnostic clinical markers for identifying OS in children and adolescents with DM1, and may, perhaps, hold promise as a prognostic tool for future complications associated with the disease.


Asunto(s)
Diabetes Mellitus Tipo 1/sangre , Peroxidación de Lípido , Peróxidos Lipídicos/sangre , Proteínas/metabolismo , Sustancias Reactivas al Ácido Tiobarbitúrico/metabolismo , Adolescente , Biomarcadores/sangre , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Masculino
11.
Acta Paediatr ; 110(12): 3356-3364, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34050976

RESUMEN

AIM: To investigate the prevalence of overweight, obesity and central obesity in students of primary and secondary education, and the association with lifestyle parameters. METHODS: A total of 3504 students, aged 10-16 years old, from Western Greece participated in this cross-sectional epidemiological study (participation rate: 90%). Demographic, socioeconomic, dietary, physical activity and screen time data were obtained using a questionnaire. Anthropometric measurements were also obtained. Overweight and obesity were estimated using the Centers for Disease Control and Prevention (CDC) and International Obesity Task Force (IOTF) criteria and central obesity using the WHtR ≥0.5 and IDF criteria. RESULTS: The prevalence of overweight and obesity was 19.2% and 12.1% with CDC criteria, respectively, and 20.9% and 7.2%, with IOTF criteria respectively. Central obesity was 31.1 and 32.8% using the Waist-to-Height ratio (WHtR) ≥0.5 and International Diabetes Federation (IDF) criteria respectively. Male gender, small number of meals, breakfast skipping, frequent consumption of school food and sweets and the presence of a computer in children's rooms, were identified as the strongest lifestyle factors affecting weight. CONCLUSION: Overweight, obesity and central obesity rates remain high among children and adolescents in Greece. The identification of risk factors associated with the manifestation of obesity and central obesity, may contribute to the implementation of targeted prevention and treatment interventions.


Asunto(s)
Sobrepeso , Obesidad Infantil , Adolescente , Índice de Masa Corporal , Desayuno , Niño , Estudios Transversales , Conducta Alimentaria , Grecia/epidemiología , Humanos , Estilo de Vida , Masculino , Obesidad/epidemiología , Sobrepeso/epidemiología , Obesidad Infantil/epidemiología , Prevalencia
12.
Horm Metab Res ; 52(11): 769-774, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32898896

RESUMEN

The rapid spread of coronavirus disease (COVID-19) worldwide justifies global effort to combat the disease but also the need to review effective preventive strategies and medical management for potentially high-risk populations during the pandemic. Data regarding the COVID-19 manifestations in adults with underlying endocrine conditions, especially diabetes mellitus, are increasingly emerging. Albeit children and adolescents are considered to be affected in a milder manner, paucity of information regarding COVID-19 in children who suffer from endocrinopathies is available. The present review comprehensively collects recommendations issued by various health organizations and endocrine associations for the management of pediatric endocrine conditions during the pandemic. Adhering to the specific "sick day management rules" and undelayed seeking for medical advice are only needed in most of the cases, as the vast majority of children with endocrine disorders do not represent a high-risk population for contamination or severe presentation of COVID-19. Psychological implications in these children and adolescents are also considered.


Asunto(s)
Betacoronavirus/fisiología , Infecciones por Coronavirus/complicaciones , Enfermedades del Sistema Endocrino/complicaciones , Enfermedades del Sistema Endocrino/virología , Neumonía Viral/complicaciones , Adolescente , COVID-19 , Niño , Infecciones por Coronavirus/psicología , Enfermedades del Sistema Endocrino/psicología , Humanos , Pandemias , Neumonía Viral/psicología , SARS-CoV-2
13.
J Paediatr Child Health ; 56(8): 1283-1289, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32668093

RESUMEN

AIM: The appendix testis (AT) is a vestigial remnant of Müller's paramesonephric duct. Insulin-like 3 hormone (INSL3) is produced in the Leydig cells of the testis. We investigated the possible correlation between AT length and plasma INSL3 concentrations in patients with congenital cryptorchidism (CCO) and patients with hydrocele, who served as controls. METHODS: A total of 40 patients with CCO and 34 patients with hydrocele and orthotopic testes were investigated. Sixteen patients presented high cryptorchidism and 24 low cryptorchidism. During surgery, AT was identified in 34 patients with CCO (high cryptorchidism:15, low cryptorchidism:19) and 28 controls. Plasma INSL3 levels were measured with a spectrophotometry enzyme immunoassay Elisa sandwich technique. RESULTS: AT was present in 85.0% of the boys with CCO and 82.4% of the controls. A significant positive correlation was found between the AT length and INSL3 concentrations in CCO patients. CONCLUSIONS: A longer AT may reflect better testicular function in boys with CCO, since it is correlated with higher INSL3 concentrations.


Asunto(s)
Apéndice , Criptorquidismo , Criptorquidismo/cirugía , Humanos , Insulina , Masculino , Péptidos , Proteínas , Testículo
14.
Eur J Pediatr ; 178(8): 1151-1160, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31243576

RESUMEN

Hyperinsulinaemic hypoglycaemia (HH) is a major cause of hypoglycaemia in the neonatal period, infancy and childhood. It is caused by unsuppressed insulin secretion in the setting of hypoglycaemia and carries a high risk of significant neurological sequelae, such as cognitive impairment. Genetic mutations have been implicated in the pathogenesis of the condition. Other causes include intra-uterine growth retardation, perinatal asphyxia, maternal diabetes mellitus and syndromes, such as Beckwith-Wiedemann. Based on the aetiology, the clinical presentation can range from absence of symptoms to the typical adrenergic symptoms and coma and even death. The diagnosis is based on biochemical findings and the gold-standard imaging technique is 18F-DOPA PET/CT scanning. Treatment options involve medications, such as diazoxide, nifedipine, glucagon and octreotide, as well as surgery. Novel treatment, such as long-acting octreotide, lanreotide and sirolimus, may be used as an alternative to pancreatectomy. Potential future medical treatments include exendin, a GLP-1 receptor antagonist, and glucagon infusion via a pump.Conclusion: Advances in the fields of genetic testing, imaging techniques and medical treatment are beginning to provide novel insights into earlier detection, less invasive treatment approaches and fewer complications associated with the complex entity of hyperinsulinaemic hypoglycaemia. What is Known: • HH is caused by dysregulated insulin release from the ß cell due to genetic mutations and carries a risk for complications, such as neurocognitive impairment. 18F-DOPA PET/CT scanning is presented as the gold-standard imaging technique currently in children with hyperinsulinaemic hypoglycaemia. • Clinical presentation is heterogeneous and treatment options include medical therapy and pancreatectomy. What is New: • 18F-DOPA PET/CT is indicated in suspected focal CHI due to paternal transmitted mutations in ABCC8 or KCNJ11. • Novel treatment options have been introduced, such as long-acting octreotide, lanreotide, sirolimus and selective nonpeptide somatostatin receptor subtype 5 (SSTR5) agonists. Future medical treatments include exendin, a GLP-1 antagonist, and glucagon infusion via a pump. However, all these options are off-label at present.


Asunto(s)
Hiperinsulinismo Congénito , Niño , Preescolar , Terapia Combinada , Hiperinsulinismo Congénito/diagnóstico , Hiperinsulinismo Congénito/etiología , Hiperinsulinismo Congénito/fisiopatología , Hiperinsulinismo Congénito/terapia , Marcadores Genéticos , Pruebas Genéticas , Humanos , Lactante , Recién Nacido
15.
Pediatr Diabetes ; 18(8): 839-843, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28004474

RESUMEN

Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria. We report 2 siblings with Donohue syndrome (cases 1, 2) with multiple clinical and biochemical characteristics. Both patients shared the same mutation and presented with intra-uterine growth restriction, failure to thrive, fasting hyperinsulinaemic hypoglycaemia and episodic post-prandial hyperglycaemia. Less common clinical features were also present, such as atrial septal defect and biventricular hypertrophy, clotting disorders, abnormal liver function tests and nephrocalcinosis. Interestingly, 2 previously unrecognized manifestations of the syndrome were also identified: severe gastrointestinal dysmotility (case 1) and exocrine pancreatic insufficiency (case 2). The co-existence of all the above clinical features makes these cases extremely rare. Gastrointestinal dysmotility should always be considered as a potentially fatal feature in patients with the syndrome, due to the complexity of the possible co-morbidities. In addition, our clinical experience for the first time suggests that pancreatic exocrine insufficiency may offer a possible explanation for the growth retardation observed in some patients with this syndrome. Our finding that replacement treatment with pancreatic enzymes improved weight gain (case 2) implies that all patients with Donohue syndrome should be investigated for exocrine pancreatic insufficiency.


Asunto(s)
Síndrome de Donohue/fisiopatología , Insuficiencia Pancreática Exocrina/etiología , Motilidad Gastrointestinal , Antígenos CD/genética , Síndrome de Donohue/complicaciones , Síndrome de Donohue/genética , Resultado Fatal , Femenino , Humanos , Lactante , Recién Nacido , Páncreas/fisiopatología , Receptor de Insulina/genética
20.
Hormones (Athens) ; 2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38607611

RESUMEN

PURPOSE: Hypoglycemia represents a significant source of anxiety for children with type 1 diabetes mellitus (T1DM) and their caretakers. Fear of hypoglycemia (FoH) was measured in children and adolescents with T1DM as well as in their parents using an established research instrument, the Hypoglycemia Fear Survey (HFS). METHODS: This is a two-center, cross-sectional study involving 100 children and adolescents aged 6-18 years old diagnosed with T1DM. One parent of each child also participated in the study. The participants, who were recruited from two different pediatric endocrine outpatient clinics, were asked to complete the translated Greek version of the HFS, which includes one version for children (C-HFS) and one for parents (P-HFS). The association of the questionnaire responses with subjects' characteristics, such as current age, age at diagnosis, duration of diabetes, HbA1c levels, and mode of diabetes treatment were assessed. RESULTS: Parents exhibited significantly higher mean HFS scores than their children. No significant correlation was found between the P-HFS or the C-HFS scores and the age of the children, duration of diabetes, HbA1c, or mode of treatment. CONCLUSION: The finding that parents experience higher levels of FoH compared to their children emphasizes the importance of healthcare providers to screen parental FoH and focus on approaches to support them in order to reduce their psychological burden, thus optimizing children's diabetes management.

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