Journal of Pediatric Endocrinology & Metabolism最新文献

Objectives: The COVID-19 pandemic brought about major changes, such as lifestyle changes, modification in telecommunication, as well as increased mental and psychological burden. This has raised concerns regarding its impact on the quality of life of children and adolescents with type 1 diabetes. To detect the impact of COVID-19 pandemic on children and adolescents with type 1 diabetes in terms of lifestyle changes and telecommunication service using a predesigned questionnaire, as well as quality of life using the Pediatric Quality of Life Inventory (PedsQL).

Methods: A cross-sectional study including 286 participants with type 1 diabetes at the Pediatrics and Adolescent Diabetes Unit was conducted from March to August 2022. A predesigned questionnaire was used to collect data about lifestyle, telecommunication service, and quality of life using PedsQL.

Results: Results show that most of the participants (62.2 %) food consumption increased during the lockdown period. Moreover, results also reveal that 79.7 % of the participants were informed about the telecommunication service, 93.4 % of them actually used it, and 88.6 % thought it was simple. As regards the quality of life, there was a statistically significant difference in PedsQL total score between the younger and older groups, with a p-value=0.009 indicating a better quality of life in the older group.

Conclusions: The COVID-19 pandemic influenced the lifestyle of children and adolescents with type 1 diabetes. Their food consumption increased, the telemedicine service was easy to use and appealed to the majority, and the quality of life of older participants was better.

Objectives: Clinical (assessing breast development), laboratory (FSH, LH, estradiol, and GnRH stimulation test), and radiological methods (bone age and pelvic ultrasonography) are used to distinguish central precocious puberty (CPP) from premature thelarche (PT). We examined also via bioelectrical impedance analysis (BIA).

Methods: The fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water, and percentages (%), basal metabolic rate, phase angle (PhA), muscle-to-fat ratio (MFR), sarcopenic index, and segmental body proportions were determined via Tanita MC-780 MA model measuring device.

Results: A total of 111 girls, 34 with CPP, 35 with PT, and 42 with healthy controls, were included. Although the baseline weight, height, and BMI SDS of the groups were not statistically different, the FM (%) was found to be lower (p=0.021), and the FFM (%) (p=0.021), MM (%) (p=0.015), BM (%) (p=0.022), and MFR values (p=0.017) were higher in CPP group. In CPP group, right arm FM (%) (p=0.016), left arm FM (%) (p=0.007), and trunk FM (%) (p=0.008) were lower than other groups.

Conclusions: We detected a MFR cutoff value of (2.96) with 58.8 % sensitivity and 58.4 % specificity, a cutoff value of (3.57) with 50 % sensitivity and 82 % specificity to differentiate CPP cases from others (PT and healthy controls). These rates are relatively low, but these are the first results in this field and may be guiding for studies conducted in large series.

Introduction: Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disease beginning before 16 years. Inflammatory cytokine, medication, and genetic factors may lead to puberty disorders in children with JIA. The main objectives of this systematic review were to elucidate the impact of JIA on puberty and identify the influential factors that disrupt puberty.

Content: A systematic literature review was performed on pubertal disorders from Medline, Google Scholar, and Scopus databases. This systematic review followed the preferred reporting items for systematic review guidelines. The initial search yielded 4,011 articles: identified by Google Scholar (3,880), PubMed (99), and Scopus (940). Finally, 11 articles were retained.

Summary and outlook: The age of menarche onset, Tanner stage, and pubertal signs were later compared with controls. The mean age of menarche onset ranged from 12.0 ± 0.3 to 13.39 ± 0.93 years for the JIA girls. This delay was more reported in the polyarticular and oligoarticular subtypes. Menstrual irregularities, metrorrhagia with irregular cycles, primary oligomenorrhea, and secondary amenorrhea were also reported. Factors found to influence delayed menarche and puberty were steroid use, JIA subtype, disease duration, and age at onset. Any studies have focused on the effect of puberty on JIA outcomes. Overall, our review revealed that pubertal disorders are frequent in JIA patients with polyarticular and systemic subtypes. However, some influencing factors remain editable if well-assessed and controlled.

Objectives: Polycystic ovary syndrome (PCOS) is known one of the most common causes of menstrual irregularities and hyperandrogenism in adolescents. We compared cases with increased risk for PCOS (presence of clinical hyperandrogenemia (CH) and/or biochemical hyperandrogenemia (BH) along with menstrual irregularity (MI)) and cases with only MI.

Methods: Patients were divided into four subgroups. Those with only MI (n=130), CH+MI (n=68), BH+MI (n=25), and CH+BH+MI (n=31). Age, weight, height, and body mass index were recorded. The CH was assessed by the presence of persistent acne, hirsutism, or androgenic alopecia. Modified Ferriman Gallwey (mFG) score was used to evaluate hirsutism. Cases with total testosterone levels above 55 ng/dL were considered to have BH.

Results: We observed that basal LH and LH/FSH ratio do not provide insight into CH. Unlike, DHEA-S (p=0.006), total testosterone (p=0.003), and free androgen index (FAI) (p=0.027) are relatively high in patients with CH. Polycystic ovarian morphology (PCOM) is lower in cases with only MI compared to cases with increased risk of PCOS (43.3 vs. 56.7 %, p=0.096). We predicted that 28.05 μg/L for Total testosterone, 75.9 for FAI, and 192.9 μg/dL for DHEA-S could be used as a cut-off value with a sensitivity and specificity over 60 %, ​​to distinguish MI from increased risk for PCOS.

Conclusions: After excluding other secondary endocrinological causes of MI in the first years, routine use of total testosterone, DHEA-S, and FAI is sufficient to distinguish cases presenting menstrual disorders due to anovulation from increased risk of PCOS.

Objectives: 17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene mapped at chromosome 10q, and are required for the synthesis of sex steroids and cortisol. 17α-hydroxylase deficiency causes a decrease in cortisol and androgen with a subsequent overproduction of adrenocorticotrophic hormone (ACTH), gonadotropin, and 11-deoxycorticosterone. However, isolated 17,20-lyase deficiency is a rare condition that results in sex steroid deficiency with normal serum cortisol. This case series aims to report a novel canonical splice site CYB5A variant causing isolated 17,20-lyase deficiency and highlight the utility of steroid metabolomics in diagnosing 17α-hydroxylase and isolated 17,20-lyase deficiencies.

Case presentations: We describe four patients with ambiguous genitalia who were accurately diagnosed through steroid metabolomics using liquid chromatography- mass spectroscopy (LC-MS). Genetic testing identified a novel homozygous likely pathogenic 5' canonical splice site variant, c.129 + 1G>A in intron 1 of CYB5A gene, resulting in isolated 17, 20 lyase deficiency.

Conclusions: Here, we report four patients with 46, XY disorder of sexual development (DSD) from two families with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to cytochrome b5 variant with a variable spectrum of under-virilization who had received inadequate treatment for a prolonged period of time due to incorrect diagnosis.

Objectives: This study aimed to explore the relationships between sleep parameters, chronotype preferences, and glycemic control in children and adolescents with type 1 diabetes (T1DM), compared to healthy peers.

Methods: 96 children and adolescents with T1DM and 95 healthy controls aged 8-18 years participated in this case-control study. Anthropometric measurements were collected, and participants completed the Munich Chronotype Questionnaire and the Pittsburgh Sleep Quality Index (PSQI). Glycemic control was assessed using HbA1c levels.

Results: Children with T1DM demonstrated significantly shorter sleep durations, poorer sleep quality, and a later chronotype compared to controls (p<0.05). Poor glycemic control (HbA1c>7.5 %) was observed in 72.9 % of the T1DM group, with 34.3 % exhibiting very poor control (HbA1c>9 %). Logistic regression identified poor sleep quality (PSQI score, OR: 1.47, p<0.001) and later chronotype (OR: 5.14, p<0.01) as independent predictors of poor glycemic control. Generalized linear modeling (GLM) further revealed significant associations between HbA1c levels, insulin dosage (p<0.001), and chronotype (p=0.090).

Conclusions: Late chronotype and poor sleep quality are closely linked to suboptimal glycemic control in pediatric T1DM populations. These findings underscore the importance of integrating sleep-focused strategies into routine diabetes management.

Objectives: Here we present a case of 46,XY disorder of sex development (DSD) in which three variants were detected in the SRY, DHX37, and POR genes.

Case presentation: A patient with 46,XY karyotype and female phenotype presented at 15 years 3 months of age due to absence of puberty. She exhibited facial signs such as midfacial hypoplasia, long face, proptosis, bulbous nose, mild prognathism and skeletal signs such as scoliosis, pectus carinatum, arachnodactyly and her sex development remained prepubertal. The patient was found to have hypergonadotropic hypogonadism, elevation of 17-OH progesterone and progesterone levels, low anti-mullerian hormone and inhibin B levels, and absence of gonads and a hypoplastic uterus on pelvic ultrasound. Whole exome sequencing revealed a novel hemizygous missense variant in the SRY gene (c.247C>T, p.Pro83Ser), a homozygous missense variant in the POR gene (c.1355C>T, p.Pro452Leu), and a novel heterozygous missense variant in the DHX37 gene (c.1325A>G, p.His442Arg).

Conclusions: Our patient is the first case in which the coexistence of variants in the SRY, DHX37 and POR genes was detected. This case suggests that a combined phenotype characterized by DSD and alterations in adrenal function may result from genetic variants in the SRY, DHX37 and POR genes involved in gonadal development and synthesis of adrenal hormones.

Objectives: Central precocious puberty (CPP) is one of the common endocrine diseases in pediatrics. However, the molecular mechanisms regulating development of CPP have remained unclear. The purpose of this study was to discover the key pathways and hub genes related to CPP.

Methods: We analyzed two public datasets (GSE7142 and GSE8310) to identify differentially expressed genes in the progression of CPP. Then, we screened out overlapping differential genes from these two datasets and performed a series of bioinformatics analyses to explore promising targets and molecule mechanism of CPP.

Results: We identified 30 down-regulated overlapping DEGs between GSE7142 (CPP/no CPP) and GSE8130 (EP/JUV) datasets and 17 down-regulated overlapping DEGs between GSE7142 (CPP/no CPP) and GSE8130 (LP/JUV) datasets. KEGG signaling pathway shows that calcium signaling pathway is suppressed continuously in early and late pubertal of CPP patients. MAPK signaling pathway also plays an important role in the occurrence and development of CPP. Eventually, we screened out 2 hub genes (FGFR2 and FLT1) highly related to CPP, which may provide a new directions for the diagnosis and treatment of CPP.

Conclusions: While further validation is needed, we provide useful and novel information to explore potential signaling pathways and candidate genes for CPP diagnosis and treatment options.

Objectives: This study aimed to identify the 25-hydroxyvitamin D (25OHD) threshold that maximally suppressed parathyroid hormone (PTH) in a group of healthy Chinese Infants in Hong Kong.

Methods: Healthy infants detected to have low serum 25OHD less than 25 nmol/L in a population study on vitamin D status were referred to Hong Kong Children's Hospital (HKCH) for further management. Their total 25OHD was repeated with serum calcium, phosphate, alkaline phosphatase and PTH. Three-phase segmented regression was used to identify the optimal breakpoint between 25OHD and PTH.

Results: Two hundred and twelve infants were included (59 % male). They were reassessed at a median age of 156 days (IQR: 111-247 days). Using unadjusted three-phase segmented regression, the estimated breakpoint of 25OHD on PTH suppression, after adjusting for factors including age, gender, history of vitamin D supplement and mode of feeding, was 20.0 nmol/L (95 % CI: 13.1 to 26.9).

Conclusions: The threshold of 25OHD that triggered the inflection point for PTH in our Hong Kong Chinese infants was lower than that reported in the Western literature. This might imply the cutoff for vitamin D deficiency is lower for Chinese infants. This could be explained by younger age and different ethnicity. Further study with larger sample size is needed to validate the observation.

Obesity is a complex, chronic condition characterised by excess adiposity. Rates of obesity in childhood and adolescence are increasing worldwide, with a corresponding increase in adulthood. The aetiology of obesity is multifactorial and results from a combination of endocrine, genetic, environmental and societal factors. Population level approaches to reduce the prevalence of childhood obesity worldwide are urgently needed. There are wide-ranging complications from excess weight affecting every system in the body, which lead to significant morbidity and reduced life expectancy. Treatment of obesity and its complications requires a multi-faceted, biopsychosocial approach incorporating dietary, exercise and psychological treatments. Pharmacological treatments for treating childhood obesity have recently become available, and there is further development of new anti-obesity medications in the pipeline. In addition, bariatric surgery is being increasingly recognised as a treatment option for obesity in adolescence providing the potential to reverse complications related to excess weight. In this review, we present an update on the prevalence, aetiology, complications and treatment of childhood obesity.