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Gonadal dysfunction is a well-known endocrine manifestation of Down syndrome (DS) in men. Herein, we report a case of a seven-year-old boy with DS who developed precocious puberty, presenting with a six-month history of frequent erections, sudden growth spurts, and adult odors. Clinical examination revealed stage 2 puberty, with pubic hair development at stage 2 based on Tanner staging and bilateral testicular volumes of 6 mm. Laboratory tests indicated elevated luteinizing hormone (LH) and follicle-stimulating hormone levels and advanced bone age. A pituitary MRI revealed normal pituitary morphology without any detectable masses. The patient was initially prescribed monthly triptorelin acetate (Decapeptyl) intramuscular injections at a dose of 3.75 mg. Following six months, the treatment was switched to triptorelin pamoate (Diphereline) at a dose of 11.25 mg administered intramuscularly every three months. At age 10, following a three-year course of gonadotropin-releasing hormone (GnRH) agonist therapy, the patient demonstrated a notable decrease in testicular size and a reduction in LH levels, with no reported side effects. Conclusively, our findings imply that idiopathic central precocious puberty in boys with DS can be effectively managed with triptorelin pamoate injections, and early intervention may help alleviate the psychosocial impact of this condition.

The rising prevalence of electronic cigarette (E-cigarette) use among adolescents is a major public health concern. This study investigates the prevalence of E-cigarette use among male adolescents in Al-Ahsa, Saudi Arabia, and explores associated factors. A cross-sectional study was conducted from December 2022 to April 2023, involving 476 male students aged 12 to 19. Data were collected through structured questionnaires, covering sociodemographic information, E-cigarette usage patterns, reasons for use, sources of acquisition, awareness of nicotine content, and perceptions of harm. Statistical analysis was performed using SPSS 25 (IBM Corp., Armonk, NY), with significance set at p < 0.05. The study revealed a prevalence of 17.4% E-cigarette use among participants, with 12.6% using E-cigarettes exclusively and 4.8% concurrently with traditional tobacco cigarettes. Key findings included initiation as early as age eight, sustained and frequent use, and motivations including peer influence (61.4%), curiosity (31.3%), and flavored options (26.5%). Online platforms (34.9%) and shopping malls (28.9%) were the primary sources of E-cigarette acquisition. Most participants were aware of the nicotine content (84.3%) and believed E-cigarettes were harmful (86.7%). Importantly, 69.9% expressed intentions to quit, with 44.6% planning to do so within 30 days. Significant associations were found between E-cigarette use, education level, and having friends who smoke. This study highlights the prevalence of E-cigarette use among male adolescents in Al-Ahsa, Saudi Arabia, and identifies peer influence, curiosity, and appealing flavors as driving factors. Targeted prevention and intervention programs, along with regulatory efforts to restrict access, are urgently needed to address this growing public health issue. Increasing awareness of E-cigarette risks and providing cessation support are vital steps towards mitigating E-cigarette use among Saudi male adolescents.

Background Goiter is a common presenting sign of various thyroid diseases in children. Thyroid nodules are clinically and/or radiologically significant findings due to their high malignancy rate. The ultrasound (US) characteristics of pediatric patients with goiter are rarely reported in literature; thus, the purpose of this study is to assess the characteristics of thyroid US and the prevalence of thyroid nodules in pediatric patients with goiter. Methods A retrospective review of children and adolescents under the age of 18 (2015–2020) referred for neck ultrasound due to goiter in clinical examination. Results A total of 262 patients were included with a mean age of 13.77 ± 3.7 years. Thyroid antibodies were positive in 119/262 (45.4%) patients. Thyroid US reported to be abnormal in 210/262 (80%) patients. Thyroid nodule were found in 33.6% (n = 88/262) of patients with goiter and in 41.9% (n = 88/210) of patients with abnormal thyroid US result. Patients with positive antibodies had more of heterogeneity and hypervascularity of the gland on thyroid US (P < 0.001). On the other hand, thyroid nodules were more likely to be presented in patients with negative thyroid antibodies (P = 0.025). The heterogeneity within the thyroid positive group was significantly correlated with increasing TPOAb (P < 0.001) and TSH levels (P < 0.028). Heterogeneity on US had a positive predictive value (P = 0.041), while hypervascularity had low prediction for thyroid nodules (P = 0.022). Age, gender, family history of thyroid diseases, antibodies status and echogenicity in US did not show any significant associations with thyroid nodules. Papillary thyroid carcinoma was diagnosed in six patients and one of these patients was positive for thyroid antibodies. Conclusion Thyroid nodules are quite common in our population. Thyroid nodules were significantly associated with heterogeneity in US. Although, no clinical or biochemical factors could predict the presence of thyroid nodules on thyroid US in our cohort, the absence of thyroid antibodies should lower the threshold for performing thyroid US.

Background/Objectives: Childhood obesity is a growing public health concern globally, with significant physical and psychological implications. While numerous studies have linked obesity to poor mental health outcomes, cultural differences may influence this relationship. This study examines the association between childhood obesity and psychological well-being among Saudi children aged 8–12 years. Methods: A cross-sectional case-control study was conducted in Al-Hofuf, Saudi Arabia. A total of 128 children were recruited, divided into a high-body-weight group (n = 64) and a healthy-weight group (n = 64). Psychological well-being was assessed using the Psychological Well-being Scale for Children (PWSC) and the Stirling Children’s Well-being Scale (SCWS). Anthropometric measurements were recorded, and parental body mass index (kg/m2) data were included. Data analysis was performed using SPSS 2023, employing chi-square tests and t-tests. Results: No statistically significant differences were found between the children’s body mass index (kg/m2) groups across most psychological well-being dimensions. However, a significant association was observed between maternal body mass index (kg/m2) and children’s PWSC scores (χ2 = 6.217, p = 0.045), suggesting a potential influence of parental weight on child well-being. Additionally, a significant sex difference in SCWS scores was noted, with males displaying higher well-being levels than females (χ2 = 7.798, p = 0.041). Family income and school grade showed no significant associations with psychological well-being. Conclusions: Contrary to findings from Western studies, childhood obesity did not significantly impact psychological well-being in this Saudi sample. Cultural factors, parental influence, and age-related differences may contribute to these results. Further longitudinal and qualitative research is needed to explore these associations in greater depth.

Background: Coinfection with bacteria, fungi, and respiratory viruses has been described as a factor associated with more severe clinical outcomes in children with COVID-19. Such coinfections in children with COVID-19 have been reported to increase morbidity and mortality. Objectives: To identify the type and proportion of coinfections with SARS-CoV-2 and bacteria, fungi, and/or respiratory viruses, and investigate the severity of COVID-19 in children. Methods: For this systematic review and meta-analysis, we searched ProQuest, Medline, Embase, PubMed, CINAHL,Wiley online library, Scopus, and Nature through the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for studies on the incidence of COVID-19 in children with bacterial, fungal, and/or respiratory coinfections, published from 1 December 2019 to 1 October 2022, with English language restriction. Results: Of the 169 papers that were identified, 130 articles were included in the systematic review (57 cohort, 52 case report, and 21 case series studies) and 34 articles (23 cohort, eight case series, and three case report studies) were included in the meta-analysis. Of the 17,588 COVID-19 children who were tested for co-pathogens, bacterial, fungal, and/or respiratory viral coinfections were reported ('n' = 1633, 9.3%). The median patient age ranged from 1.4 months to 144 months across studies. There was an increased male predominance in pediatric COVID-19 patients diagnosed with bacterial, fungal, and/or viral coinfections in most of the studies (male gender: 'n' = 204, 59.1% compared to female gender: 'n' = 141, 40.9%). The majority of the cases belonged to White (Caucasian) ('n' = 441, 53.3%), Asian (n = 205, 24.8%), Indian (n = 71, 8.6%), and Black (n = 51, 6.2%) ethnicities. The overall pooled proportions of children with laboratory-confirmed COVID-19 who had bacterial, fungal, and respiratory viral coinfections were 4.73% (95% CI 3.86 to 5.60, 'n' = 445, 34 studies, 'I2' 85%, 'p' < 0.01), 0.98% (95% CI 0.13 to 1.83, 'n' = 17, six studies, 'I2' 49%, 'p' < 0.08), and 5.41% (95% CI 4.48 to 6.34, 'n' = 441, 32 studies, I2 87%, 'p' < 0.01), respectively. Children with COVID-19 in the ICU had higher coinfections compared to ICU and non-ICU patients, as follows: respiratory viral (6.61%, 95% CI 5.06-8.17, 'I2' = 0% versus 5.31%, 95% CI 4.31-6.30, 'I2' = 88%) and fungal (1.72%, 95% CI 0.45-2.99, 'I2' = 0% versus 0.62%, 95% CI 0.00-1.55, 'I2' = 54%); however, COVID-19 children admitted to the ICU had a lower bacterial coinfection compared to the COVID-19 children in the ICU and non-ICU group (3.02%, 95% CI 1.70-4.34, 'I2' = 0% versus 4.91%, 95% CI 3.97-5.84, 'I2' = 87%). The most common identified virus and bacterium in children with COVID-19 were RSV ('n' = 342, 31.4%) and 'Mycoplasma pneumonia' ('n' = 120, 23.1%). Conclusion: Children with COVID-19 seem to have distinctly lower rates of bacterial, fungal, and/or respiratory viral coinfections than adults. RSV and 'Mycoplasma pneumonia' were the most common identified virus and bacterium in children infected with SARS-CoV-2. Knowledge of bacterial, fungal, and/or respiratory viral confections has potential diagnostic and treatment implications in COVID-19 children.

Background Inborn errors of immunity (IEIs) are considered significant challenges for children with IEIs, their families, and their medical providers. Infections are the most common complication of IEIs and children can acquire coronavirus disease 2019 (COVID-19) even when protective measures are taken. Objectives To estimate the incidence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children with IEIs and analyse the demographic parameters, clinical characteristics and treatment outcomes in children with IEIs with COVID-19 illness. Methods For this systematic review, we searched ProQuest, Medline, Embase, PubMed, CINAHL, Wiley online library, Scopus and Nature through the Preferred Reporting Items for Systematic Reviews and Meta Analyses (PRISMA) guideline for studies on the development of COVID-19 in children with IEIs, published from December 1, 2019 to February 28, 2023, with English language restriction. Results Of the 1095 papers that were identified, 116 articles were included in the systematic review (73 case report, 38 cohort 4 case-series and 1 case–control studies). Studies involving 710 children with IEIs with confirmed COVID-19 were analyzed. Among all 710 IEIs pediatric cases who acquired SARS-CoV-2, some children were documented to be admitted to the intensive care unit (ICU) (n = 119, 16.8%), intubated and placed on mechanical ventilation (n = 87, 12.2%), suffered acute respiratory distress syndrome (n = 98, 13.8%) or died (n = 60, 8.4%). Overall, COVID-19 in children with different IEIs patents resulted in no or low severity of disease in more than 76% of all included cases (COVID-19 severity: asymptomatic = 105, mild = 351, or moderate = 88). The majority of children with IEIs received treatment for COVID-19 (n = 579, 81.5%). Multisystem inflammatory syndrome in children (MIS-C) due to COVID-19 in children with IEIs occurred in 103 (14.5%). Fatality in children with IEIs with COVID-19 was reported in any of the included IEIs categories for cellular and humoral immunodeficiencies (n = 19, 18.6%), immune dysregulatory diseases (n = 17, 17.9%), innate immunodeficiencies (n = 5, 10%), bone marrow failure (n = 1, 14.3%), complement deficiencies (n = 1, 9.1%), combined immunodeficiencies with associated or syndromic features (n = 7, 5.5%), phagocytic diseases (n = 3, 5.5%), autoinflammatory diseases (n = 2, 3%) and predominantly antibody deficiencies (n = 5, 2.5%). Mortality was COVID-19-related in a considerable number of children with IEIs (29/60, 48.3%). The highest ICU admission and fatality rates were observed in cases belonging to cellular and humoral immunodeficiencies (26.5% and 18.6%) and immune dysregulatory diseases (35.8% and 17.9%) groups, especially in children infected with SARS-CoV-2 who suffered severe combined immunodeficiency (28.6% and 23.8%), combined immunodeficiency (25% and 15%), familial hemophagocytic lymphohistiocytosis (40% and 20%), X-linked lymphoproliferative diseases-1 (75% and 75%) and X-linked lymphoproliferative diseases-2 (50% and 50%) compared to the other IEIs cases. Conclusion Children with IEIs infected with SARS-CoV-2 may experience higher rates of ICU admission and mortality in comparison with the immunocompetent pediatric populations. Underlying immune defects does seem to be independent risk factors for severe SARS-CoV-2 infection in children with IEIs, a number of children with SCID and CID were reported to have prolonged infections–though the number of patients is small–but especially immune dysregulation diseases (XLP1 and XLP2) and innate immunodeficiencies impairing type I interferon signalling (IFNAR1, IFNAR2 and TBK1).

Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here an experience of treating an infant with asymptomatic VDI that had a prolonged course of recovery and a sustainable level of vitamin D over a follow-up period of 2.5 years. In our patient, vitamin D started to drop steadily after a month of stopping vitamin D supplements but not to a normal level. It reached an acceptable level only after six months. This case emphasizes the importance of educating parents about the empirical use of vitamin D over the counter, assessing the baseline level of serum vitamin D level prior to initiation of treatment and highlights the value of verifying additional dietary sources of vitamin D or oral supplements in patient’s history.

Background: Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of lifestyle changes on quality of life (QoL) for children with type 1 diabetes (T1D) during RF. Methods: A cross-sectional study that assessed the effect of lockdown on lifestyle and QoL on fasting children living with T1D during Ramadan in the Middle East and North Africa region (2020-2021). We compared the child (self) and parent (proxy) reports using PEDQoL v3.0 disease specific questionnaire during lockdown and non-lockdown periods, and assessed correlations with lifestyle changes using regression and gap analyses. Results: A total of 998 reports from 499 children with T1D aged 8 to 18 years (study = 276, control = 223), and their parents during RF in lockdown and non-lockdown periods. Fathers were more involved in their children’s care during lockdown (P = .019). Patients had better compliance with treatment (P = .002), a reversed sleep pattern (P = .033), increased food intake (P ⩽ .001), and less exercise (P < .001). Children and parents perceived better QoL during lockdown (P ⩽.001) with no differences between their reports in “Diabetes Symptoms”, “Treatment Adherence,” and “Communication” domains. Self and proxy reports were different in all domains during non-lockdown (P = <.001-.009). In gap analysis, although not statistically significant, the gap was approximated between children’s and parents’ perceptions in all domains during lockdown. Conclusion: COVID-19 lockdown had a positive impact on QoL of children living with T1D during RF, possibly due to lifestyle changes and superior psychosocial family dynamics.

Background: Intussusception (ISN) post-COVID-19 infection in children is rare but can occur. SARS-CoV-2 may play a role in the pathogenesis of ISN and trigger immune activation and mesenteric adenitis, which predispose peristaltic activity to “telescope” a proximal bowel segment into the distal bowel lumen. Objectives: To estimate the prevalence of SARS-CoV-2 infection in ISN children and analyze the demographic parameters, clinical characteristics and treatment outcomes in ISN pediatric patients with COVID-19 illness. Methods: We performed this systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Studies reporting on the incidence of ISN post-SARS-CoV-2 infection in children, published from 1 December 2019 until 1 October 2022, in PROQUEST, MEDLINE, EMBASE, PUBMED, CINAHL, WILEY ONLINE LIBRARY, SCOPUS and NATURE, with a restriction to articles available in the English language, were included. Results: Of the 169 papers that were identified, 34 articles were included in the systematic review and meta-analysis (28 case report, 5 cohort and 1 case-series studies). Studies involving 64 ISN patients with confirmed COVID-19 (all patients were children) were analyzed. The overall pooled proportions of the ISN patients who had PCR-confirmed SARS-CoV-2 infection was 0.06% (95% CI 0.03 to 0.09, n = 1790, four studies, I2 0%, p = 0.64), while 0.07% (95% CI 0.03 to 0.12, n = 1552, three studies, I2 0%, p = 0.47) had success to ISN pneumatic, hydrostatic and surgical reduction treatment and 0.04% (95% CI 0.00 to 0.09, n = 923, two studies, I2 0%, p = 0.97) had failure to ISN pneumatic, hydrostatic and surgical reduction treatment. The median patient age ranged from 1 to 132 months across studies, and most of the patients were in the 1–12 month age group (n = 32, 50%), p = 0.001. The majority of the patients were male (n = 41, 64.1%, p = 0.000) and belonged to White (Caucasian) (n = 25, 39.1%), Hispanic (n = 13, 20.3%) and Asian (n = 5, 7.8%) ethnicity, p = 0.000. The reported ISN classifications by location were mostly ileocolic (n = 35, 54.7%), and few children experienced ileo-ileal ISN (n = 4, 6.2%), p = 0.001. The most common symptoms from ISN were vomiting (n = 36, 56.2%), abdominal pain (n = 29, 45.3%), red currant jelly stools (n = 25, 39.1%) and blood in stool (n = 15, 23.4%). Half of the patients never had any medical comorbidities (n = 32, 50%), p = 0.036. The approaches and treatments commonly used to manage ISN included surgical reduction of the ISN (n = 17, 26.6%), pneumatic reduction of the ISN (n = 13, 20.2%), antibiotics (n = 12, 18.7%), hydrostatic reduction of the ISN (n = 11, 17.2%), laparotomy (n = 10, 15.6%), intravenous fluids (n = 8, 12.5%) and surgical resection (n = 5, 7.8%), p = 0.051. ISN was recurrent in two cases only (n = 2, 3.1%). The patients experienced failure to pneumatic (n = 7, 10.9%), hydrostatic (n = 6, 9.4%) and surgical (n = 1, 1.5%) ISN treatment, p = 0.002. The odds ratios of death were significantly higher in patients with a female gender (OR 1.13, 95% CI 0.31–0.79, p = 0.045), Asian ethnicity (OR 0.38, 95% CI 0.28–0.48, p < 0.001), failure to pneumatic or surgical ISN reduction treatment (OR 0.11, 95% CI 0.05–0.21, p = 0.036), admission to ICU (OR 0.71, 95% CI 0.83–1.18, p = 0.03), intubation and placement of mechanical ventilation (OR 0.68, 95% CI 0.51–1.41, p = 0.01) or suffering from ARDS (OR 0.88, 95% CI 0.93–1.88, p = 0.01) compared to those who survived. Conclusion: Children with SARS-CoV-2 infection are at low risk to develop ISN. A female gender, Asian ethnicity, failure to ISN reduction treatment (pneumatic or surgical), admission to ICU, mechanical ventilation and suffering from ARDS were significantly associated with death following ISN in pediatric COVID-19 patients.

Managing severe insulin resistance (IR) is challenging, necessitating a multifaceted approach, including dietary restriction, exercise, and pharmacotherapy. This paper will detail our utilization of dapagliflozin in a series of cases involving patients with severe IR of various etiology and inadequate glycemic control. We describe six cases of extreme IR with distinct clinical diagnoses: four with Rabson-Mendenhall syndrome (RMS), one with IR type 1A, and a patient with type 1 diabetes mellitus (T1DM) and severe subcutaneous (SC) IR. These cases exhibit the observable characteristics of IR, characterized by an inability to effectively manage blood glucose (BG) with a standard treatment plan. Every case had a remarkable response to dapagliflozin. Subsequent assessment demonstrated improved HgbA1C, fasting glucose, insulin, and C-peptide concentrations. Furthermore, several cases demonstrated improvement in the clinical manifestations of IR following the administration of dapagliflozin, while others showed a reduction in the frequency of diabetic ketoacidosis (DKA). There were no documented adverse reactions with the use of dapagliflozin for a duration of 2-4 years in these patients. Dapagliflozin appeared both safe and effective as a standalone treatment or when used alongside other antidiabetes medications such as insulin in a case series of children with T1DM and severe IR or IR syndromes (IRS).