Weight Standard Deviation Score Research Articles

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.

Delayed puberty (DP) is a frequent concern for adolescents. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to differentiate from the more severe condition congenital hypogonadotrophic hypogonadism (HH), especially on first presentation of an adolescent patient with DP. This study sought to elucidate phenotypic differences between the two diagnoses, in order to optimise patient management and pubertal development. This was a study of a UK DP cohort managed 2015-2023, identified through the NIHR clinical research network. Patients were followed longitudinally until adulthood, with a definite diagnosis made: SLDP if they had spontaneously completed puberty by age 18 years; HH if they had not commenced (complete, cHH), or had commenced but not completed puberty (partial, pHH), by this stage. Phenotypic data pertaining to auxology, Tanner staging, biochemistry, bone age and hormonal treatment at presentation and during puberty were retrospectively analysed. 78 patients were included. 52 (66.7%) patients had SLDP and 26 (33.3%) patients had HH, comprising 17 (65.4%) pHH and 9 (34.6%) cHH patients. Probands were predominantly male (90.4%). Male SLDP patients presented with significantly lower height and weight standard deviation scores than HH patients (height p=0.004, weight p=0.021). 15.4% of SLDP compared to 38.5% of HH patients had classical associated features of HH (micropenis, cryptorchidism, anosmia, etc. p=0.023). 73.1% of patients with SLDP and 43.3% with HH had a family history of DP (p=0.007). Mean first recorded luteinizing hormone (LH) and inhibin B were lower in male patients with HH, particularly in cHH patients, but not discriminatory. There were no significant differences identified in blood concentrations of FSH, testosterone or AMH at presentation, or in bone age delay. Key clinical markers of auxology, associated signs including micropenis, and serum inhibin B may help distinguish between SLDP and HH in patients presenting with pubertal delay, and can be incorporated into clinical assessment to improve diagnostic accuracy for adolescents. However, the distinction between HH, particularly partial HH, and SLDP remains problematic. Further research into an integrated framework or scoring system would be useful in aiding clinician decision-making and optimization of treatment. .

Fetal growth restriction inhibits childhood growth despite catch-up in discordant identical twins: an observational cohort study.

Research suggests that postnatal catch-up growth after fetal growth restriction (FGR) occurs frequently. Yet, postnatal growth in singletons may be influenced by multiple factors. Identical twins with discordant prenatal growth, termed selective FGR (sFGR), can be regarded as a natural experiment eliminating these sources of bias. Observational cohort study. Monochorionic twins with sFGR born between 2002 and 2017 (aged 3-17 years) were eligible. Growth measurements (height, weight, head circumference, and body mass index) were performed at follow-up. Detailed growth curves documented by a systematic primary care system in the Netherlands were collected. Measurements were converted to standard deviation scores (SDSs). A mixed-effects model was used to assess within-pair SDS difference and individual height SDS relative to target height SDS. Forty-seven twin pairs (94 children) were included at a median age of 11 (interquartile range 8-13) years. At the last measurement, smaller twins at birth had a lower height SDS [-0.6 vs -0.3, P < .001, median difference 0.5 (95%CI 0.4-0.7)], lower weight SDS [-0.5 vs -0.1, P < .001, median difference 0.8 (95%CI 0.5-1.0)], and lower head circumference SDS [-0.5 vs 0.2, P < .001, median difference 0.8 (95%CI 0.6-0.9)] compared to larger twins. These differences persisted until the age of 17. Smaller twins showed rapid catch-up growth in the first 2 years and reached their target height range between 8 and 11 years. Identical twins with discordant prenatal growth maintain a modest but significant difference in height, weight, and head circumference, indicating a persistent, inhibitory effect of an adverse intrauterine environment on childhood growth.

Do preterm infants with Bronchopulmonary dysplasia have a unique postnatal weight gain pattern?

Objectives To investigate the weight gain pattern of preterm infants with bronchopulmonary dysplasia (BPD) during the hospital stay using weekly weight assessment methods. Methods This single-center, retrospective, cohort study was carried out in Zekai Tahir Burak Maternal Health Education and Research Hospital between 2014 and 2018. One hundred fifty-one preterm infants <32 weeks of gestation and <1500 g of birth weight with BPD were compared to 251 babies without BPD in terms of weekly weight gain, standard deviation score (SDS), and fall in weight SDS till discharge. Results Mean body weight was significantly lower in babies with BPD in all weeks except postnatal week (PW) 8. The groups had similar daily weight gain between birth and discharge (p = .78). Infants with BPD had lower weight SDS on postnatal day (PD) 14 and 21, and discharge, however similar on PD 28. The fall in SDS between PW 4 and discharge was significantly higher in the BPD group. Infants with BPD had higher fall in weight SDS between birth and discharge (p = .022). Discharge weight SDS was associated with gestational age and weight SDS on PW 4 in the whole cohort. Conclusion Infants with BPD showed a unique and unsteady pattern of growth compromise during the NICU course, most explicitly in early postnatal life and between PD 28-discharge. Future studies should consider not only the early postnatal life but also the period after four weeks of life till discharge to design an optimal nutrition strategy and decent growth for preterm infants with BPD.

Management of Central Diabetes Insipidus in Disabled Children with Diluted Oral Desmopressin Lyophilisate Formulation Administered Through Nasogastric Tube: A Retrospective Case Series.

Experience with nasogastric administration of oral DDAVP [desamino-D-arginine-8-vasopressin] lyophilisate (ODL) for central diabetes insipidus (CDI) in disabled children with swallowing coordination difficulties is limited. We aimed to assess the safety and efficacy of nasogastric use of ODL in disabled children with CDI. Time to serum sodium normalisation was compared with that of children with normal intellect and CDI treated with sublingual DDAVP. Clinical, laboratory and neuroimaging characteristics were evaluated for 12 disabled children with CDI treated with ODL through nasogastric tube at Dr Behcet Uz Children's Hospital, Turkey,between 2012 and 2022. Six boys and six girls with a mean (±SD) age of 43 (± 40) months were evaluated. These children (mean [±SD] weight standard deviation score [SDS] -1.2 ± 1.7; mean [±SD] height SDS -1.3 ± 1.4) presented with failure to thrive, irritability, prolonged fever, polyuria and hypernatraemia (mean serum sodium 162 [±3.6] mEq/L). At diagnosis, mean serum and urine osmolality were 321 (± 14) mOsm/kg and 105 (± 7.8) mOsm/kg, respectively. Arginine vasopressin (AVP) levels were undetectable (<0.5pmol/L) at diagnosis in all patients. Nasogastric tube administration of DDAVP lyophilisate (120µg/tablet) dissolved in water (10mL) was commenced at a dose of 1-5µg/kg/day in two divided doses together with controlled water intake to avoid hyponatraemia. The frequency and dose of DDAVP were titrated based on urine output and serum sodium concentration. Serum sodium declined at a rate of 0.11± 0.03mEq/L/h and reached normal range in a mean duration of 174 ± 46.5 h. Serum sodium declined faster in children with normal intellect and CDI treated with sublingual DDAVP (1.28± 0.39mEq/L/h; p=0.0003). Three disabled children needed rehospitalisation because of hypernatraemia due to unintentional DDAVP omission by caregivers. No episode of hyponatraemia was observed. Weight gain and growth were normal during the median (± interquartile range) follow-up duration of 32 ± 67 months. Nasogastric administration of oral DDAVP lyophilised formulation was safe and effective in the treatment of CDI in disabled children in this small retrospective series.

Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty.

Genetic studies of familial central precocious puberty (CPP) have suggested that makorin ring finger protein 3 (MKRN3) is the primary inhibitor of gonadotropin-releasing hormone (GnRH) secretion. Obesity in girls can cause early puberty by affecting the hypothalamic-pituitary-gonadal (HPG) axis. This study evaluated the serum MKRN3 level of patients with CPP and its relationship with body mass index (BMI). The study included 92 CPP and 86 prepubertal healthy controls (HC) aged 6-10 years. The CPP and HC groups were divided into obese and non-obese subgroups to evaluate whether BMI affects MKRN3. Patients' presenting complaints, chronological age, height age, bone age, Tanner stage, standard deviation scores for weight, height, and BMI, levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and MKRN3, and pelvic ultrasonography findings were recorded. The serum MKRN3 levels were lower in the CPP group and lowest in the CPP-obese subgroup. There were significant differences in MKRN3 levels between the CPP-obese and CPP-normal weight (p=0.02), CPP-obese and HC-obese (p<0.001), and CPP-obese and HC-normal weight (p=0.03) groups. MKRN3 and BMI were negatively correlated in all cases (r=-0.326, p<0.001). The negative correlation between BMI and MKRN3, and lower MKRN3 levels in CPP-obese patients, suggests that adipose tissue has a role in the onset of puberty. More comprehensive studies are needed to determine the relationship between MKRN3 and adipose tissue.

Long-Term Endocrinologic Follow-Up of Children with Brain Tumors and Comparison of Growth Hormone Therapy Outcomes: A SingleCenter Experience.

Brain tumors in childhood carry a high risk for endocrine disorders due to the direct effects of the tumor and/or surgery and radiotherapy. Somatotropes are vulnerable to pressure and radiotherapy; therefore, growth hormone deficiency is one of the most frequent abnormalities. This study aimed to evaluate endocrine disorders and recombinant growth hormone treatment outcomes in brain tumor survivors. In this study, 65 (27 female) patients were classified into 3 groups as craniopharyngioma (n = 29), medulloblastoma (n = 17), and others (n = 19). "Others" group included astrocytoma, ependymoma, germinoma, pineoblastoma, and meningioma patients. Anthropometric data and endocrine parameters of patients and their growth outcome with/without recombinant growth hormone therapy were collected from medical records, retrospectively. Mean age at the first endocrinological evaluation was 8.7 ± 3.6 years (range: 1.0- 17.1 years). Height, weight, and body mass index standard deviation score, mean ± standard deviation (median) values were -1.7 ± 1.7 (-1.5), -0.8 ± 1.9 (-0.8), and 0.2 ± 1.5 (0.4), respectively. Hypothyroidism (central 86.9%, primary 13.1%) was detected during follow-up in 81.5% of patients. Primary hypothyroidism in medulloblastoma (29.4%) was significantly higher compared to other groups (P = .002). The frequency of hypogonadotropic hypogonadism, central adrenal insufficiency, and diabetes insipidus was significantly high in the craniopharyngioma cases. In our study, endocrine disorders other than growth hormone deficiency were also frequently observed. In craniopharyngioma cases, the response to recombinant growth hormone therapy was satisfactory. However, there was no improvement in height prognosis during recombinant growth hormone therapy in medulloblastoma patients. A multidisciplinary approach to the care of these patients, referral for endocrine complications, and guidelines on when recombinant growth hormone therapy is required.

Effects of early recombinant human growth hormone treatment in young Chinese children with Prader–Willi syndrome

BackgroundPrader–Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human growth hormone (rhGH) treatment has been proven to rescue some symptoms and bring additional benefits to PWS patients, studies in patients under 2 years old are scarce. Thus, this study aims to investigate the effectiveness and safety of rhGH treatment for young children.MethodsA total of 96 genetically confirmed Chinese PWS infants or toddlers (47 males) followed between 2013 and 2022 were retrospectively analyzed. Sixty-five infants (early treatment group) started rhGH treatment during their first year, and 31 toddlers (later treatment group) started at the age of 1–2 years. Auxological parameters, carbohydrate metabolism parameters, thyroid function, liver function, insulin-like growth factor-1 (IGF-1), and radiographs were acquired before the initiation of the treatment and every 3–6 months thereafter. Height/length, weight, and weight for height were expressed as standard deviation scores (SDSs) according to WHO child growth standards.ResultsThe mean SDS of length/height in the early treatment group was significantly higher than that in the later treatment group throughout the observation period (all P < 0.001). The change in the length SDS between the two groups at 1 year old and 4 years old was 1.50 (95% CI, 0.88–2.13) and 0.63 (95% CI, 0.16–1.10), respectively. Compared to the later treatment group, the weight SDS in the early treatment group increased by 0.94 (95% CI, 0.37–1.52) at 1 year old and 0.84 (95% CI, 0.28–1.39) at 2 years old. No statistical significance was found after 2.5 years of age. No significant differences were observed in IGF-1, incidence of liver dysfunction, hypothyroidism or spinal deformity between the two groups.ConclusionsrhGH treatment improved growth and body composition in infants and toddlers. Furthermore, an early start of rhGH treatment is expected to have more efficacy than the later treatment group without an increase in adverse effects.

Associations between Maternal Diet, Human Milk Macronutrients, and Breast-Fed Infant Growth during the First Month of Life in the SMILE Iwamizawa in Japan.

Maternal diet may affect human milk macronutrients, but it remains to be elucidated whether this is also influential in infant growth. This study aimed to examine (1) how maternal diet influences human milk macronutrients, and (2) to what extent the variation in milk macronutrients affects infant growth during the first month of life. In 71 Japanese lactating women, maternal dietary information was collected from the brief-type self-administered diet history questionnaire, and anthropometry of mother-infant dyads was collected from medical records. Macronutrients in milk were analyzed by a Human Milk Analyzer. Maternal retinol intake was associated with the carbohydrate content in human milk at 1-month postpartum (standardized β coefficient: 0.287; p = 0.038). Moreover, the energy content in human milk was associated with an increase in the weight standard deviation score based on the WHO growth standard at 1 month of age (standardized β coefficient: 0.399; p = 0.046). Nevertheless, the milk macronutrient was not associated with the risk of infant growth abnormalities. In conclusion, a part of the maternal diet impacts macronutrient contents in human milk, but milk macronutrients have a limited effect on infant growth only within the normal growth curve during the first month of life.

The effect of ureteropelvic junction obstruction and pyeloplasty on somatic growth during infancy.

Evidence regarding the impact of perinatal ureteropelvic junction obstruction (UPJO) and surgical correction during infancy, on somatic growth are scarce. Understanding these impacts could help advise parents and aid in treatment decision making. To assess the impact of unilateral UPJO and surgical correction on somatic growth in infants diagnosed antenatally and treated during infancy. A retrospective bi-institutional analysis of somatic growth in patients under 2 years who underwent dismembered pyeloplasty for the treatment of UPJO was conducted. We evaluated patients who were diagnosed with unilateral hydronephrosis during pre-natal ultrasound screening for detection of fetal anomalies between May 2015 and October 2020. The height and weight of patients who were diagnosed with UPJO were recorded at the age of 1 month, time of surgery, and 6 months after surgery. Standard deviation scores (SDSs) for height and weight were calculated and compared. Forty-eight patients under the age of 2 years were included in the analysis. Median age and weight at pyeloplasty were 6.9 months and 7.5 kg. At 1 month, the median SDS for weight in the entire cohort was -0.30 [interquartile range (IQR): -1.0 to 0.63] and the median SDS for height was -0.26 (IQR: -1.08 to 0.52). In 22.9% of patients (11/48), weight and height were below -1 age-appropriate standard deviations, and 6.3% (3/48) were below -2 standard deviations, suggesting growth restriction. When comparing SDS for the entire cohort, there was no significant difference corelated to measurement time or effect of surgery. In the growth restricted cohort, we found a significant improvement in linear growth for height, which was demonstrated between birth and surgery as well as after surgery. Infants with unilateral UPJO diagnosed antenatally as a single anomaly may be at an increased risk of somatic growth restriction in comparison with the general population. In children with growth restriction at time of birth, height seems to improve regardless of surgical treatment. Pyeloplasty during infancy does not seem to negatively affect somatic growth. These findings can be used to counsel parents regarding the potential effects of UPJO and pyeloplasty.

High Flow Nasal Cannula Therapy in the Pediatric Home Setting.

High flow nasal cannula (HFNC) therapy may be better tolerated than traditional non-invasive ventilation (NIV) and is rapidly gaining acceptance in pediatric acute care. In Israel, HFNC is approved for domestic use. We aim to describe its indications, efficacy, parental satisfaction and safety. Retrospective study of children treated with home HFNC therapy in three pediatric centers. Data included demographic parameters, indication of use, weight and days of hospitalization before and after initiation. Safety, tolerability and parental satisfaction were assessed via standardized telephone questionnaire. Median (IQR) age of initiating home HFNC in 75 children was 8.3 (2.2, 29.6) months. Indications were obstructive sleep apnea (33; 44%), airway malacia (19; 25%), chronic lung disease (15; 20%), neuromuscular disease (4; 5%) and post-extubation support (4; 5%). Weight standard deviation score rose from -2.3 pre HFNC to -1.7 at 6.7 months post HFNC initiation, p<0.001. Hospital admission days during the two months pre vs post HFNC initiation were 22 (5.5, 60) and 5 (0, 14.7) respectively, p<0.008. Median (IQR) parental satisfaction score was 5/5 (4, 5). Fifty of 60 (83%) respondents would recommend home HFNC to other families in a similar situation. There were no serious adverse events. In our population, domestic HFNC appeared safe and well tolerated for a variety of indications. Its introduction was associated with improved weight gain, fewer hospitalization days and high parental satisfaction. Further work is required to characterize groups of children most likely to benefit from HFNC, as opposed to traditional modes of NIV. This article is protected by copyright. All rights reserved.

Positive effects of ketogenic diet on weight control in children with obesity due to Prader-Willi syndrome.

Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Prevention and management of obesity, which represents the main cause of morbidity and mortality in these patients, is essential. Ketogenic diet (KD) is used in the treatment of various disorders, however knowledge of its effect in PWS is lacking. The present study assesses the characteristics of patients with PWS who were on KD. This is a retrospective, cross-sectional descriptive study investigating the subjects with PWS, who had received KD for at least 6 months. Ten patients with PWS[median age 52.5 (47-77)months]complied with KD. The median treatment period was 16.5 [11-52]months. Of the daily calorie, 75%-85% were from fat, and 15%-25% from protein + carbohydrate. The baseline body weight standard deviation (SD)score before diet therapy was 2.10 [-1.11-4.11], whereas it was 0.05 [-0.92-1.2]at final evaluation (p = .007). The baseline median BMI SD score before diet therapy was 3.05 [-0.21-3.72], whereas it was 0.41 [-0.87-1.57]at final evaluation (p = .002). The height SD score remained unchanged. Mild hypercholesterolaemia was the most common biochemical abnormality during treatment with KD. Our results indicate that KD might have a favourable effect on weight management in PWS.

Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome

BackgroundRecombinant human growth hormone (rhGH) therapy has shown to improve height and body composition in children with Prader–Willi syndrome (PWS), the evidence of early rhGH treatment on motor and mental development is still accumulating. This study explored the time effect on psychomotor development, anthropometric indexes, and safety for infants and young children with PWS.MethodsA phase 3, single-arm, multicenter, self-controlled study was conducted in six sites. Patients received rhGH at 0.5 mg/m2/day for first four weeks, and 1 mg/m2/day thereafter for up to 52 weeks. Motor development was measured using Peabody Developmental Motor Scales-second edition, mental development using Griffiths Development Scales-Chinese (GDS-C). Height standard deviation score (SDS), body weight SDS, and body mass index (BMI) SDS were also assessed.ResultsThirty-five patients were enrolled totally. Significant improvements were observed in height, body weight, and BMI SDS at week 52; GDS-C score showed significant improvement in general quotient (GQ) and sub-quotients. In a linear regression analysis, total motor quotient (TMQ), gross motor quotient (GMQ), and fine motor quotient were negatively correlated with age; however, treatment may attenuate deterioration of TMQ and GMQ. Changes in GQ and locomotor sub-quotient in < 9-month group were significantly higher than ≥ 9-month group. Mild to moderate severity adverse drug reactions were reported in six patients.ConclusionFifty-two-week treatment with rhGH improved growth, BMI, mental development, and lessened the deterioration of motor function in infants and young children with PWS. Improved mental development was more pronounced when instituted in patients < 9 months old.

Effects of relaxation therapy on maternal psychological status and infant growth following late preterm and early-term delivery: a randomized controlled trial

BackgroundMaternal stress is one modifiable variable that could influence mother–infant signaling and negatively affect breastfeeding and infant growth. ObjectivesThis study aimed to test the hypothesis that relaxation therapy would reduce maternal stress and improve infant growth, behavior, and breastfeeding outcomes after late preterm (LP) and early-term (ET) delivery. MethodsA single-blind randomized controlled trial was conducted in healthy Chinese primiparous mother–infant pairs after LP or ET delivery (34+0–37+6 gestation weeks). Mothers were randomly assigned to the intervention group (IG, listening to relaxation meditation at least once a day) or control group (CG, normal care). Primary outcomes—changes in maternal stress (perceived stress scale), anxiety (Beck Anxiety Inventory), and infant weight and length standard deviation score—were assessed at 1 wk and 8 wks postpartum. Secondary outcomes—breast milk energy and macronutrient composition, maternal breastfeeding attitudes, infant behaviors (3-d diary), and 24-hour milk intake—were assessed at 8 wks. ResultsIn total, 96 mother–infant pairs were recruited. There was a significantly greater reduction in maternal perceived stress (Perceived Stress Scale score) (mean difference [MD] = 2.65; 95% CI: 0.8, 4.5) and significantly greater infant weight standard deviation score gain (MD = 0.51; 95% CI: 0.2, 0.9) from 1 wk to 8 wks in the IG than those in the CG. Exploratory analyses showed a significant interaction between intervention and sex, with greater effects on weight gain in female infants. Mothers of female infants used the intervention more frequently with significantly higher milk energy observed at 8 wks. ConclusionsThe relaxation meditation tape is a simple, effective practical tool that could easily be used in clinical settings to support breastfeeding mothers after LP and ET delivery. The findings need confirmation in larger groups and in other populations.

Is thrombocytopenia and postnatal weight gain associated with treatment-requiring retinopathy of prematurity? A matched case-control study.

The purpose of the study was to investigate the association of platelet parameters and postnatal weight gain with treatment-requiring ROP (TR-ROP). In this retrospective matched case-control study, infants with TR-ROP were individually matched, according to gestational age and birth weight, with one or two untreated infants who developed no or spontaneously regressed ROP. Longitudinal data on platelet count (PLT), mean platelet volume (MPV), daily weight and platelet transfusions were collected. Platelet mass index (PMI) and weight standard deviation score (WSDS) were also calculated. Conditional logistic regression analysis was performed to adjust for matching. Fourteen cases, presenting type I ROP, and 25 matched controls were included. The odds of developing TR-ROP decreased as PLT increased during 31st week of postmenstrual age (PMA) or during 1st and 2nd week of postnatal age (PNA). The odds of developing TR-ROP were 16.7 times higher in infants receiving at least one platelet transfusion compared with those who were not transfused. The odds of developing TR-ROP increased by 31.2% as the mean volume of platelet transfusion per infant increased by 1ml. The odds of developing TR-ROP decreased as PMI increased during 1st week PNA, and as weight and WSDS increased during 4th -6th week PNA. Analysis of MPV, number of thrombopenic episodes per infant, number of platelet transfusions per infant and days with WSDS < -2 showed no association with TR-ROP. To our knowledge, this is the first study ascertaining an association of platelet transfusions with type I ROP. Prospective cohort studies are required to confirm our findings.

Maternal Metals Exposure and Infant Weight Trajectory: The Japan Environment and Children's Study (JECS).

To our knowledge, the association of maternal exposure to metallic elements with weight trajectory pattern from the neonatal period has not been investigated. The goals of this study were to identify infant growth trajectories in weight in the first 3 y of life and to determine the associations of maternal blood levels of lead, cadmium, mercury, selenium, and manganese with growth trajectory. This longitudinal study, part of the Japan Environment and Children Study, enrolled 103,099 pregnant women at 15 Regional Centres across Japan between 2011 and 2014. Lead, cadmium, mercury, selenium, and manganese levels were measured in blood samples collected in the second (14-27 wk gestational age) or third trimester (). Growth trajectory of 99,014 children was followed until age 3 y. Raw weight values were transformed to age- and sex-specific weight standard deviation (SD) scores, and latent-class group-based trajectory models were estimated to determine weight trajectories. Associations between maternal metallic element levels and weight trajectory were examined using multinomial logistic regression models after confounder adjustment. We identified 5 trajectory patterns based on weight SD score: 4.74% of infants were classified in Group I, very small to small; 31.26% in Group II, moderately small; 21.91% in Group III, moderately small to moderately large; 28.06% in Group IV, moderately large to normal; and 14.03% in Group V, moderately large to large. On multinomial logistic regression, higher maternal lead and selenium levels tended to be associated with increased odds ratios (ORs) of poor weight SD score trajectories (Groups I and II), in comparison with Group III. Higher levels of mercury were associated with decreased ORs, whereas higher levels of manganese were associated with increased ORs of "moderately large" trajectories (Groups IV and V). Maternal lead, mercury, selenium, and manganese blood levels affect infant growth trajectory pattern in the first 3 y of life. https://doi.org/10.1289/EHP10321.

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. Delineation of the molecular defects is important for prognosis and predicting familial recurrence. We evaluated epigenetic alterations and potential epigenotype-phenotype correlations in Korean children with BWS. Forty children with BWS with proven genetic or epigenetic defects in the 11p15.5 region were included. The phenotype was scored using the BWS consensus scoring system. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), bisulfite pyrosequencing, a single-nucleotide polymorphism microarray, and CDKN1C sequencing were used for confirmative diagnosis. Patients met the criteria for genetic testing, with a mean clinical score of 5.4±2.0. Methylation alterations were consistent between MS-MLPA and bisulfite pyrosequencing in all patients. Twenty-six patients (65.0%) had IC2 loss of methylation (IC2-LoM), 11 (27.5%) had paternal uniparental disomy (patUPD), and one (2.5%) had IC1 gain of methylation. Macroglossia and external ear anomalies were more common in IC2-LoM than in patUPD, and lateralized overgrowth was more common in patUPD than in IC2-LoM (all P<0.05). Methylation levels at IC2 were inversely correlated with birth weight standard deviation score (r=-0.476, P=0.014) and clinical score (r=-0.520, P=0.006) in the IC2-LoM group. Comprehensive molecular analysis of the 11p15.5 region revealed epigenotype-phenotype correlations in our BWS cohort. Bisulfite pyrosequencing can help clarify epigenotypes. Methylation levels were correlated with fetal growth and clinical severity in patients with BWS.

Growth and Metabolic Syndrome (MetS) criteria in young children with classic Congenital Adrenal Hyperplasia (CAH) treated with corticosteroids (CS).

Treatment of children with congenital adrenal hyperplasia (CAH) with corticosteroids (CS) may increase the risk for developing different components of metabolic syndrome (MetS). Aim: We assessed the occurrence of cardiometabolic risk factors in children with CAH on treatment with CS since early infancy. Data of 30 children with CAH were analyzed retrospectively. They have received hydrocortisone (HC; n = 11) or prednisolone (P; n= 19) and fludrocortisone (0.1- 0.15 mg once daily) since early infancy. The different cardiometabolic criteria including blood pressure (BP), fasting glucose, low-density lipoprotein (LDL), and serum cholesterol concentrations were studied and compared with the data for 66 age-matched obese children. Children with CAH on treatment for > 5 years had a high rate of obesity and overweight (60%) and short stature (23.3%), respectively. They had higher occurrences of abnormal cardio-metabolic components including high LDL and triglyceride and BP as well as increased carotid intima-media thickness (CIMT). Females had higher body mass index (BMI) and BP compared to males. The less controlled group was older and had faster linear growth compared to the controls. In the CAH group, BP and CIMT were correlated significantly with BMI-SDS and weight-standard deviation score (Wt-SDS). Neither the level of 17-hydroxy-Progesterone (17-OHP), nor the HC dose was correlated with BP, CIMT or BMI. These findings suggest the role played by excessive weight gain on the increased cardiometabolic risk factors in children with CAH on treatment with CS.

Nutritional follow-up in children after discharge: Organisation in a tertiary care centre.

Aiming to improve the standard of care for patients with a nutritional intervention, we evaluated how nutritional follow-up (FU) is organised at discharge and after 6 months. From 16 November 2020 until 20 December 2020, we retrospectively included patients admitted for > 1 day to the general ward of a tertiary hospital. Medical charts were reviewed for demographics, anthropometric measurements and nutritional interventions (e.g., tube, parenteral nutrition). Involved healthcare provider (HCP), dietitian and speech and language therapist (SLT) were scored. Nutritional care FU was categorised as in a primary, secondary or tertiary care setting. We included 206 (52.4% male) patients, with a median length of stay of 4 (3-8) days. Prehospitalisation 58 (28.2%) patients had a nutritional intervention compared to 74 (35.9%) patients at discharge. In total, 80 (38.8%) patients received nutritional care FU by a total of 114 HCP, and approximately half (53.5%) were dietitians. FU was mostly conducted by a dietitian in the tertiary care (78.7%) and by an SLT in the primary care (54.5%). For 15 (20.3%) patients, the discharge letter included complete reports of nutritional interventions. At 6 months FU, 26.6% of the children still had a nutritional intervention. Mean weight standard deviation score increased significantly between discharge from the hospital and 6 months FU. A considerable amount of paediatric patients received a nutritional intervention pre- and post-hospitalisation. Nutritional care is organised around a multitude of different HCP; however, not all cases are multidisciplinary. Nutritional care was scarcely reported correctly in the discharge letter.

Association of Plasma Cortisol Levels with Gestational Age and Anthropometric Values at Birth in Preterm Infants.

There are no study reports to clarify the association between gestational age (GA) or anthropometric values at birth, and plasma cortisol levels in the blood of preterm infants at birth and at one month of age. This hospital-based retrospective cohort study included infants born at <37 weeks’ gestation between 2019 and 2021. First, the association between plasma cortisol level and GA or anthropometric values at birth (birth weight standard deviation score [SDS], birth length SDS, and birth head circumference SDS) was identified by regression and multiple regression analyses. Second, plasma cortisol levels in the umbilical cord at birth and at one month of age were compared between small-for-gestational age (SGA) and non-SGA infants. Sixty-one preterm infants were enrolled (SGA: 24 and non-SGA: 37). Plasma cortisol levels at birth were significantly associated with GA. Plasma cortisol levels at one month of age were associated with GA and birth head circumference SDS. Plasma cortisol levels at birth were significantly higher in SGA than non-SGA (p = 0.010). GA was an independent determinant of plasma cortisol levels at birth. SGA infants had a high plasma cortisol level at birth; resulting in speculation that a high plasma cortisol level at birth may predict abnormal neurological outcomes.

Has the Frequency of Precocious Puberty and Rapidly Progressive Early Puberty Increased in Girls During the COVID-19 Pandemic?

Objective:Early puberty is development of secondary sex characteristics earlier than the expected normal age range. We subjectively observed an increased frequency of early puberty during the Coronavirus disease-2019 (COVID-19) lockdown and aimed to show the clinical, demographic characteristics of the cases and the change in its incidence.Methods:Female patients with central precocious puberty (CPP, n=28) and rapidly progressive early puberty (RPEP, n=61), presenting to our clinic before (January 2019-March 2020) and during the COVID-19 pandemic (April 2020-June 2021) were included.Results:Among 28 CPP cases, six (21%) presented before the pandemic lockdown, whereas 22 (79%) were diagnosed during the COVID-19 pandemic lockdown. While RPEP was seen in 16 (26%) patients before the pandemic, 45 (74%) patients were diagnosed during the lockdown period. Presentation with menarche was seen in 15 RPEP patients; two (13%) were in the prepandemic period and 13 (87%) were in the lockdown period. Chronological age, bone age, bone age to chronological age ratio, height, weight, and body mass index standard deviation scores of patients with RPEP and CPP were similar between the prepandemic and pandemic period.Conclusion:In this cohort, the frequency of CPP and RPP cases were significantly (p<0.001) increased during the COVID-19 pandemic, possibly due to environmental changes.