Background: Gestational diabetes mellitus (GDM) exposes mothers and their offspring to short and long-term complications. The objective of this study was to identify the importance of potentially modifiable predictors of adverse outcomes in pregnancies with GDM. We also aimed to assess the relationship between maternal predictors and pregnancy outcomes depending on HbA1c values and to provide a risk stratification for adverse pregnancy outcomes according to the prepregnancy BMI (Body mass index) and HbA1c at the 1st booking. Methods: This prospective study included 576 patients with GDM. Predictors were prepregnancy BMI, gestational weight gain (GWG), excessive weight gain, fasting, 1 and 2-h glucose values after the 75 g oral glucose challenge test (oGTT), HbA1c at the 1st GDM booking and at the end of pregnancy and maternal treatment requirement. Maternal and neonatal outcomes such as cesarean section, macrosomia, large and small for gestational age (LGA, SGA), neonatal hypoglycemia, prematurity, hospitalization in the neonatal unit and Apgar score at 5 min < 7 were evaluated. Univariate and multivariate regression analyses and probability analyses were performed. Results: One-hour glucose after oGTT and prepregnancy BMI were correlated with cesarean section. GWG and HbA1c at the end pregnancy were associated with macrosomia and LGA, while prepregnancy BMI was inversely associated with SGA. The requirement for maternal treatment was correlated with neonatal hypoglycemia, and HbA1c at the end of pregnancy with prematurity (all p < 0.05). The correlations between predictors and pregnancy complications were exclusively observed when HbA1c was ≥5.5% (37 mmol/mol). In women with prepregnancy BMI ≥ 25 kg/m² and HbA1c ≥ 5.5% (37 mmol/mol) at the 1st booking, the risk for cesarean section and LGA was nearly doubled compared to women with BMI with < 25 kg/m² and HbA1c < 5.5% (37 mmol/mol). Conclusions: Prepregnancy BMI, GWG, maternal treatment requirement and HbA1c at the end of pregnancy can predict adverse pregnancy outcomes in women with GDM, particularly when HbA1c is ≥5.5% (37 mmol/mol). Stratification based on prepregnancy BMI and HbA1c at the 1st booking may allow for future risk-adapted care in these patients.

The objectives of this study were to (a) assess the utility of fetal anthropometric variables to predict the most relevant adverse neonatal outcomes in a treated population with gestational diabetes mellitus (GDM) beyond the known impact of maternal anthropometric and metabolic parameters and (b) to identify the most important fetal predictors. A total of 189 patients with GDM were included. The fetal predictors included sonographically assessed fetal weight centile (FWC), FWC > 90% and 90% and < 10%, at 29 0/7 to 35 6/7 weeks. Neonatal outcomes comprising neonatal weight centile (NWC), large and small for gestational age (LGA, SGA), hypoglycemia, prematurity, hospitalization for neonatal complication, and (emergency) cesarean section were evaluated. Regression analyses were conducted. Fetal variables predicted anthropometric neonatal outcomes, prematurity, cesarean section and emergency cesarean section. These associations were independent of maternal anthropometric and metabolic predictors, with the exception of cesarean section. FWC was the most significant predictor for NWC, LGA and SGA, while FACC was the most significant predictor for prematurity and FACC > 90% for emergency cesarean section. In women with GDM, third-trimester fetal anthropometric parameters have an important role in predicting adverse neonatal outcomes beyond the impact of maternal predictors.

Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein, we present a clinical case of a 14-year-old male presenting for evaluation of poor growth and pubertal delay highlighting the diagnostic challenges of CHARGE syndrome. The patient was born full term and underwent surgery at 5 days of life for bilateral choanal atresia. Developmental milestones were normally achieved. At age 14 his height and weight were -2.04 and -1.74 standard deviation score respectively. He had anosmia as well as prepubertal testes and micropenis (4 cm×1 cm). The biological profile showed low basal serum testosterone and gonadotropins (testosterone, 0.2 nmol/L; luteinizing hormone, 0.5 U/L; follicle-stimulating hormone, 1.3 U/L), and otherwise normal pituitary function and normal imaging of the hypothalamic-pituitary area. The constellation of choanal atresia, anosmia, mild dysmorphic features, micropenis and delayed puberty were suggestive of CHARGE syndrome. Targeted genetic testing of CHD7 was performed revealing a de novo heterozygous CHD7 mutation (c.4234T>G [p.Tyr1412Asp]). Further paraclinical investigations confirmed CHARGE syndrome. Despite the presence of suggestive features, CHARGE syndrome remained undiagnosed in this patient until adolescence. Genetic testing helps clarify the phenotypic and genotypic spectrum to facilitate diagnosis, thus promoting optimal follow-up, treatment, and appropriate genetic counselling.

Background: Third trimester fetal anthropometric parameters are known to predict neonatal complications. A better understanding of predictors of adverse fetal parameters might help to personalize the use and frequency of fetal ultrasound. The objectives of this study were: (a) to evaluate the utility of maternal sociodemographic, anthropometric and metabolic predictors to predict 3^rd trimester fetal anthropometric parameters in women with gestational diabetes mellitus (GDM), (b) to assess whether the impact of these maternal predictors is fetal sex-dependent, and (c) to provide a risk stratification for markers of fetal overgrowth (fetal weight centile (FWC) and fetal abdominal circumference centile (FACC) depending on prepregnancy BMI and gestational weight gain (GWG) until the 1^st GDM visit. Methods: This prospective study included 189 women with GDM. Maternal predictors were age, ethnicity, prepregnancy BMI, GWG and excessive weight gain until the 1^st GDM visit, fasting, 1-hour and 2-hour blood glucose oral glucose tolerance test values, HbA1c at the 1^st visit and medical treatment requirement. Fetal outcomes included FWC, FWC >90% and 90% and 90% and FACC. GWG until the 1^st GDM visit was associated with FWC, FACC and FACC > 90% (all p ≤ 0.045). Other maternal parameters were not significantly associated with fetal anthropometry in multivariate analyses (all p ≥ 0.054). In female fetuses, only GWG was associated with FACC (p= 0.044). However, in male fetuses, prepregnancy BMI was associated with FWC, FWC > 90% and FACC and GWG with FWC in multivariate analyses (all p ≤ 0.030). In women with a prepregnancy BMI of ≥ 25 kg/m² and a GWG until the 1^st GDM visit ≥ 10.3 kg (mean GWG), the risk for FWC > 90% and FACC > 90% was 5.3 and 4 times higher than in their counterparts. Conclusions: A personalized fetal ultrasound surveillance guided by fetal sex, prepregnancy BMI and GWG may be beneficial in reducing adverse fetal and neonatal outcomes.

Context: Bone age (BA) evaluation in children presenting growth problems is time-consuming. Artificial intelligence (AI) BA assessment programs are increasingly used. However, agreement between different commercially available methods in the same population, or possible age-, puberty- or sex-related differences have not been sufficiently evaluated. Methods: BA assessment of 521 left hand radiographs of patients aged 2-19 years with IB-lab-PANDA® and BoneXpert® were compared. Of the 521 radiographs, 213 were compared to the Greulich-Pyle (GP) reference. We analyzed gender, age, diagnosis, body mass index (BMI) and puberty categories. Accuracy was calculated as mean-absolute-deviation (MAD) and root-mean-square-error (RMSE). Results: MAD was 0.61 years and the RMSE 0.83 years between BoneXpert and IB-lab-PANDA, with poor agreement in girls over 14 years (MAD 1.18 years). Compared to the manual rating, both methods showed a positive bias in boys (0.28 years BoneXpert vs 0.51 years IB-lab-PANDA) and in children with pathologies associated with BA delay (BoneXpert 0.18 years vs IB-lab-PANDA 0.35 years). IB-lab-PANDA underestimated BA in girls after 14 years (−0.67 years). IB-lab-PANDA had a MAD of 0.64 years and RMSE of 0.85 years compared to manual assessment, whereas BoneXpert had a MAD of 0.63 years and RMSE of 0.82 years. BoneXpert was significantly more accurate than IB-lab-PANDA in prepubertal children (MAD 0.7 vs 0.83 years; P = .027). Conclusion: The direct agreement between IB-lab-PANDA® and BoneXpert® falls within human inter-rater variability. Their agreement on manual BA determination is equivalent except in prepubertal children, where BoneXpert seems more accurate. Both are fast, valuable tools for determining BA accurately and efficiently.

Die Folge- und Begleiterkrankungen der Adipositas im Kindes und Jugendalter stellen sowohl in Bezug auf die somatische und mentale Gesundheit als auch hinsichtlich der gesundheitsökonomischen Kosten und Aufwände (wie Arztbesuche, Ernährungsberatung und Physiotherapie) das Hauptproblem dar. Somatische Auswirkungen der Adipositas zeigen sich beim präpubertären Kind in der Regel als gesundheitliche Risikofaktoren, mit zunehmendem Alter und abhängig vom ethnischen, soziokulturellen und familiären Hintergrund können sich diese Risikofaktoren jedoch bereits früh als Krankheiten manifestieren. Diese Erkrankungen sind für die Adipositas-assoziierte, vorzeitige Morbidität und Mortalität verantwortlich. Bild 1 illustriert die somatischen multisystemischen Auswirkungen der Adipositas im Kindes- und Jugendalter, von denen einige in diesem Kapitel diskutiert werden. Angaben zur Morbidität sind der internationalen Literatur entnommen, decken sich jedoch mit den Daten der KIDSSTEP-Studie (s. Artikel 6 in diesem Heft) und noch unveröffentlichten Daten aus einer laufenden, longitudinalen Kohortenstudie, dem Biorepository of Obesity in Children and Adolescents at Bern – BOCAB an der Universitäts-Kinderklinik in Bern mit Daten zu über 800 Kindern und Jugendlichen mit Adipositas seit 2009.