Journal of Pediatric Endocrinology & Metabolism最新文献

Objectives: Congenital hypothyroidism (CHT) is a treatable cause of intellectual disability. Late diagnosis and delayed initiation of treatment leads to irreversible neurodevelopmental and intellectual disability. Thus, newborn screening is crucial. However, 71 % of babies are born in an area with no established newborn screening program and Kenya is not an exception. We aimed to determine the incidence of CHT, developmental outcomes of patients in the absence of newborn screening.

Methods: A retrospective data of subjects who met the inclusion criteria, newborn and infants from 3 days to 2 years whose thyroid function test (TFT) was undertaken during well baby visit or clinical suspicion of CHT were collected. Laboratory reference range for age was used to interpret the result and TSH>10 Uiu/mL after 6 weeks of life is considered abnormal according to ESPE guideline. Developmental outcome of children was collected from patient file documented by primary physician and parental concern.

Results: Of 1,426 children met inclusion criteria, 90 had elevated TSH. Out of which 70 repeat TFT showed normal TSH and free T4. The incidence of abnormal TSH across the different age groups was 2.4 , 7.2 and 10.5 % for ages 0-29 days, 1-11 months, and 1-2 years, respectively with p value of =0.0002. While 20 cases with CHT identified with incidence of 14 per 1,000 children (1.4 %; 95 % CI: 0.9-2.1 %). Out this 12 (60 %) had poor developmental outcomes. Down's syndrome was the common associated condition 9/20 (45 %). All cases were Primary CHT.

Conclusions: This study shows high incidence of CHT in a small cohort of patients over 5-year period with poor development outcome.

Objectives: Cushing's disease (CD) in the context of chronic kidney disease (CKD) is very rare. CKD causes physiological hypercortisolism making the diagnosis of CD extremely difficult. To report 3 females with CKD and CD and to outline the principles that may guide the diagnosis of CD in this context.

Case presentation: P1. A 12.3-year-old patient with CKD secondary to steroid-resistant nephrotic syndrome on hemodialysis (HD) and a medical history of aseptic meningitis. She was referred due to the incidental finding of pituitary macroadenoma. P2. A patient with CKD secondary to bilateral renal hypodysplasia in conservative treatment. At age 16.4 years, she had significant weight gain, purple-red stretch marks, galactorrhea, and menstrual irregularities. P3. A 15.3-year-old patient with CKD secondary to steroid resistant nephrotic syndrome in conservative treatment was referred for weight gain, secondary amenorrhea, and hypertension. In all patients, diagnosis of CD was confirmed by clinical and biochemical findings. P1 and P3 underwent transsphenoidal surgery, and in P2, transcranial surgery resection was performed. Histopathological examination revealed a corticotroph adenoma in P1 and P2, and in P3, immunohistochemistry demonstrated ACTH predominance. All patients achieved remission. P1 and P2 developed pituitary deficiencies.

Conclusions: To the best of our knowledge, these are the first three reported cases of the diagnostic association of CD and CKD in children. In all cases, CS was clinically suspected and CD was confirmed through complementary exams. Given the current lack of clear diagnostic criteria for CD in CKD patients, a thorough clinical evaluation remains essential for guiding the diagnosis.

Background: Previous studies have shown that vitamin D deficiency is a risk factor for obesity in children and adolescents, but most focus on school-age children and adolescents, with little attention paid preschoolers.

Objectives: To explore the relationship between overweight or obesity in the context of vitamin D intake among preschool children in Beijing, and analyze the correlation.

Methods: A total of 51,640 preschoolers (26,775 boys; 24,865 girls), aged 1-6 years, were recruited for physical examination. Overweight or obesity was defined according to the World Health Organization Child Growth and Development Standards (2006 edition). Serum 25-hydroxy (OH) vitamin D levels were determined using standardized liquid chromatography-tandem mass spectrometry (LC-MS/MS), and vitamin D status was evaluated based on the Practice Guide on Clinical Issues Related to Vitamin D Nutrition in Chinese Children (2022).

Results: No significant change was observed in the incidence of overweight (7.72, 7.51, and 7.24 %) or obesity (2.75, 2.63, and 2.40 %) from 2021 to 2023. Among boys, 7.3 % were overweight and 2.8 % were obese. Among girls, 7.6 % were overweight and 2.3 % were obese. Vitamin D deficiency (2.10, 1.70, and 1.01 %) and insufficiency rate (24.09, 18.42, and 15.44 %) showed a decreasing trend. Deficiency or insufficiency was most common in children aged 36-59 months, and serum 25- (OH) vitamin D levels were significantly lower in winter compared to other seasons, with the highest levels in summer. Time spent outdoors was significantly less among children with vitamin D deficiency or insufficiency, and preschoolers who spent more than 2.94 h/day had higher serum vitamin D level. Serum 25- (OH) vitamin D levels were negatively correlated with body mass index (BMI), with overweight or obesity preschoolers showing significantly lower than their normal weight group. After adjusting for age, gender and season, family economic status, guardian educational level and time spent outdoors, the odds of vitamin D deficiency and insufficiency in overweight or obesity in preschoolers were 1.025 (95 % Cl: 1.002-1.174), 1.218 (95 % Cl: 1.099-1.708), respectively.

Conclusions: From 2021 to 2023, there was no significant change in the incidence of overweight or obesity among preschool children in Beijing. Furthermore, the rate of vitamin D deficiency or insufficiency decreased year by year. Vitamin D deficiency or insufficiency associates with factors such as age, season of the year, and time spent outdoors, and there is an association between overweight or obesity and vitamin D status among preschoolers.

Objectives: It was aimed to investigate the outcomes of babies referred to a tertiary health center in Turkey for evaluation primary congenital hypothyroidism (CH) through newborn screening.

Methods: The hospital files of 328 newborns who were referred for CH from newborn screening between June 2013 and June 2020 were retrospectively reviewed. The newborns were evaluated with their clinical characteristics at admission, as well as their follow-up data and final diagnoses.

Results: Sixteen (4.9 %) newborns were diagnosed with transient neonatal hyperthyrotropinemia after follow-up. Treatment was initiated in 166 (50.6 %) of the cases with a diagnosis of CH. The median age at initiation of treatment was 17 days (5-69). Treatment was initiated in 88.3 % of the cases in the first month of the life. After at least 3 years of follow-up, 30/120 (20.0 %) of the cases were diagnosed with permanent CH and 11/30 (36.7 %) of them were diagnosed with thyroid dysgenesis. All of the cases who used >37.5 µg per day levothyroxine at the age of 1 or 2 years were diagnosed with permanent CH during their follow-up. For the prediction of transient CH, the sensitivity and specificity of levothyroxine doses of ≤25 µg per day at 1 year of age were calculated as 96.2 and 46.2 %, and for 2 years of age, the sensitivity and specificity were calculated as 97.8 and 65.2 %.

Conclusions: In this cohort, 10 % of all referrals result in permanent CH. Thyroid imaging with ultrasonography and levothyroxine dose during follow-up can be guiding in predicting permanent CH.

Background: Parents of children with differences of sex development (DSD) are known to suffer from psychological distress at the time of diagnosis and thereafter. We analyzed the prevalence of anxiety and depression in Indian parents of children with DSD and its associated risk factors, as well as their experiences, perceptions and expectations from the healthcare system.

Methods: This cross-sectional study included parents of children aged ≤6 years with atypical genitalia. Data was collected through face-to-face semi-structured interview using specially designed questionnaire. Depression and anxiety have been assessed using PHQ9 (Patient health questionnaire) and GAD-7 (Generalized anxiety disorder scale), respectively.

Results: The current mean age of the 43 children (46,XY=26, 46,XX=16 and chromosomal DSD=1) was 36.5 ± 21.4 months with a median age of diagnosis of 5 months (range- 0-60 months). 68 parents (35 mothers and 33 fathers) were interviewed. The score was above the cut-off for clinically significant depression in 27.2 and 25.7 % of the fathers and mothers, respectively; and for clinically significant anxiety in 15.1 and 28.6 % of the fathers and mothers, respectively. The most significant factor associated with psychological distress was rearing a boy with lower EMS in fathers and lower literacy levels (with higher perception of stigma) in mothers. Absence of family support was associated with high levels of distress in both parents.

Conclusions: There is a high level of depression and anxiety amongst Indian parents of children born with atypical genitalia and requirement for psychological support and counseling.

Objectives: Hybrid closed-loop (HCL) systems improve glycemic control in type 1 diabetes mellitus (T1D), but their effectiveness in young, poorly controlled populations is not established and requires study.

Methods: A pre-post study was performed using electronic health records of patients 3-24 years with baseline HbA1c≥9 % prescribed HCL within the New York City Health+Hospitals System assessing HbA1c levels and hospitalizations before and after HCL initiation and factors associated with achieving HbA1c<9 % after HCL initiation.

Results: Of 47 children and adolescents who met inclusion criteria, 4.68 % female, 95.72 % non-White, and 82.22 % covered by public insurance, with a baseline average HbA1c 10.6 % (2.28 IQR). The most prevalent pump type was Omnipod 5 (70.21 %). The HbA1c was significantly lower in the postperiod than baseline (HbA1c before=median 10.6 (IQR2.28), HbA1c after=median 9.33 (IQR 2.97), difference 1.00 (IQR 1.64), p<0.05) with a decrease in median diabetes-related hospitalizations (preperiod 1.00 (IQR 1.00), postperiod 0.00 (IQR 1.00), difference -1.00, IQR 2, p<0.05). Lower baseline HbA1c levels made reaching HbA1c<9 % more likely. Multivariable analysis showed that the odds of having HbA1c of <9 % was 2.1 times less likely for every one point increase in baseline HbA1c and 12.5 times less likely for those with a pump at (p<0.05).

Conclusions: HCL therapy improved glycemic control and decreased diabetes-related hospitalizations in youth with poorly controlled T1DM. Higher baseline HbA1c levels predicted less success with HCL therapy so those who stand to benefit most benefit least.

Objectives: Testicular adrenal rest tumours (TARTs) are a common cause of infertility in males with congenital adrenal hyperplasia (CAH). Ovarian adrenal rest tumours (OARTs) and polycystic ovaries (PCO) can impair ovarian function in female patients with CAH. We aim to detect gonadal changes in children and adolescents with CAH.

Methods: This study was conducted on 50 CAH patients (30 females and 20 males) with 21-hydroxylase deficiency (21-OHD), with a mean age of 10.35 ± 2.36 years. Testicular ultrasonography and pelvic magnetic resonance imaging (MRI) were done in males and females respectively. Glucocorticoid doses and biochemical data were obtained from the patients' medical records.

Results: TARTs were detected in 10/20 male patients (50 %). There was a significant relation between presence of TARTs, body mass index (BMI) standard deviation score (SDS), and bone age (p=0.017 and 0.023; respectively). There was no significant relation between presence of TARTs, laboratory parameters, or treatment received (p>0.05). Of those subjected to genetic analysis, 48 % had I2 splice (c.290-13A/C>G) followed by P30L (c.89C>T) (40.7 %). P30L (c.89C>T) was the most common allele among the patients with TARTs (42.9 %). There was no significant relation between presence of TARTs, the genotype, alleles, or the genotype groups (p>0.05). Only one female patient had radiological evidence of bilateral polycystic ovaries and none had OARTs.

Conclusions: The prevalence of TARTs in our study was high (50 %). Screening for TARTs in males with CAH is crucial; however, routine ovarian imaging in CAH females is not indicated unless ovarian dysfunction is present.

Objectives: We describe a male with Adrenal Hypoplasia Congenita (AHC) caused by a novel mutation in NR0B1, who was noted at 9 months of age to have central precocious puberty (CPP).

Case presentation: A 3-week-old full-term male presented with hypothermia and lethargy, and a 0.3 kg weight loss since birth. Labs were consistent with adrenal crisis, he was stabilized with stress dose hydrocortisone (HC), insulin, and antibiotics, and he was admitted to the Pediatric Intensive Care Unit. Subsequent labs revealed primary adrenal insufficiency with abdominal ultrasound remarkable for nonvisualization of the adrenal glands. Genetic testing identified a novel pathogenic c.707G>A [p.Trp236ter] nonsense variant in the DNA-binding domain of NR0B1 (DAX-1) confirming AHC. The patient was discharged with HC, fludrocortisone, and sodium supplementation with good tolerance and interval weight gain and normal electrolytes. At 9 months of age, the patient developed signs of precocious puberty, which failed to self-resolve or diminish with increased dosing of HC, and by the age of 15 months, he was treated with leuprolide acetate.

Conclusions: Historically, hypogonadotropic hypogonadism has been observed in 76 % of adolescent patients with AHC who have alterations in NR0B1. CPP has been infrequently described in AHC, and the natural history and management of CPP in this setting is not established. Our observations may contribute to the understanding of factors influencing normal and abnormal puberty in infants. Increased awareness of the possibility of CPP in AHC will aid clinicians in the earlier clinical and laboratory detection of this complication.

Objectives: To evaluate the long-term effectiveness of weekly vs. daily growth hormone (GH) administration in children with GH deficiency.

Methods: This study, part of the "LG Growth Study", included a total of 996 children with GH deficiency (773 receiving daily GH and 193 receiving weekly GH). Anthropometric data were collected at baseline and every 12 months; clinical and laboratory data were collected at baseline and throughout the study.

Results: At baseline, the weekly GH group was older, shorter in mid-parental height (MPH), and had more pubertal boys compared to the daily GH group (age: 8.46 ± 3.44 vs. 7.46 ± 2.89 years, p<0.001; MPH: -0.88 ± 0.73 SD vs. -1.02 ± 0.84 SD, p=0.044; pubertal boys: 34.0 vs. 16.9 %, p=0.006). Height velocity and change in height SDS during the first 12 months were higher in the daily GH group (height velocity: 9.06 ± 1.72 vs. 8.67 ± 1.98 cm/year, p=0.028; height SDS change: 0.78 ± 0.39 vs. 0.61 ± 0.41, p<0.001). However, height SDS at 24 and 48 months were similar between groups. No significant differences in overall height velocity, annualized treatment continuation rate, and safety profile were observed over 48 months.

Conclusions: Weekly GH therapy appears to be an effective and safe alternative to daily GH treatment in children with GH deficiency over a 4-year period. Further research with larger sample sizes and longer follow-up is needed to confirm these findings and assess the extended safety and effectiveness of LAGH.