Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel Variants.

3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.

Slowing of Peripheral Nerve Conduction Velocity in Children and Adolescents With Type 1 Diabetes Is Predicted by Glucose Fluctuations.

Unlabelled: Nerve conduction velocity (NCV) abnormalities are the forerunners of diabetic peripheral neuropathy (DPN). Therefore, this study aimed to analyze the effect of glucose profile quality on NCV in children and young adults with type 1 diabetes. Fifty-three children age 5 to 23 years with type 1 diabetes were recruited to participate in the study, which was conducted prospectively at the Children's Hospital of Eastern Switzerland from 2016 to 2022.

Home visits to identify the roles lifestyle and stress play in families of children with obesity.

One-sixth of Swiss children are affected by overweight, and despite the implementation of an evidence-based multiprofessional approach, there has only been moderate therapeutic success. An unfavourable home environment and psychosocial stresses on the family may impede lifestyle changes. This longitudinal observational study included children with obesity (body mass index [BMI] ≥97th percentile [P.

mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.

The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction. We hypothesized that a disruption of neuronal NO synthase (NOS1) activity underlies some forms of hypogonadotropic hypogonadism. Whole-exome sequencing was performed on a cohort of 341 probands with congenital hypogonadotropic hypogonadism to identify ultrarare variants in .

Effects of a novel mobile health intervention compared to a multi-component behaviour changing program on body mass index, physical capacities and stress parameters in adolescents with obesity: a randomized controlled trial.

Background: Less than 2% of overweight children and adolescents in Switzerland can participate in multi-component behaviour changing interventions (BCI), due to costs and lack of time. Stress often hinders positive health outcomes in youth with obesity. Digital health interventions, with fewer on-site visits, promise health care access in remote regions; however, evidence for their effectiveness is scarce.

Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.

Modeling of retrospectively collected multi-center data of a rare disease in pediatrics is challenging because laboratory data can stem from several decades measured with different assays. Here we present a retrospective pharmacometrics (PMX) based data analysis of the rare disease congenital hypothyroidism (CH) in newborns and infants. Our overall aim is to develop a model that can be applied to optimize dosing in this pediatric patient population since suboptimal treatment of CH during the first 2 years of life is associated with a reduced intelligence quotient between 10 and 14 years.

Evaluating a childhood obesity program with the Reach, Effectiveness, Adoption, Implementation, Maintenance (RE-AIM) framework.

Primary care providers can use behavioral lifestyle interventions to effectively treat children with overweight and obesity, but implementing these interventions is challenging. Most childhood obesity intervention evaluation studies focus on effectiveness. Few studies describe implementation.

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.

Objective: Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is poorly understood.

Linear stapled gastrojejunostomy results in fewer strictures compared to circular stapled gastrojejunostomy in laparoscopic gastric bypass surgery.

Purpose: Currently, there are two laparoscopic stapling techniques to perform the gastrojejunostomy in gastric bypass surgery: the linear stapling and circular stapling techniques. The aim of the study was to compare the two techniques regarding postoperative morbidity and weight loss at an accredited bariatric reference center in Switzerland.

Methods: We compared two consecutive cohorts at a single institution between November 2012 and June 2014 undergoing laparoscopic gastric bypass surgery.

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.

Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in newborn screening due to elevated 17OH-progesterone. Female external genitalia and non-measurable androgen levels elicited the suspicion of a defect early in the steroid cascade.

Health-Related Quality of Life of Young Adults Treated with Recombinant Human Growth Hormone during Childhood.

Background: Since recombinant human growth hormone (rhGH) became available in 1985, the spectrum of indications has broadened and the number of treated patients increased. However, long-term health-related quality of life (HRQoL) after childhood rhGH treatment has rarely been documented. We assessed HRQoL and its determinants in young adults treated with rhGH during childhood.

[Options and limits in the treatment of overweight children and adolescents and their families in primary care].

The general practitioner or pediatrician mostly is the first point of contact for overweight children and may recognize adiposity early enough in order to start therapy of obesity or comorbidity or to initiate measures of prevention. Interventions against overweight are most efficient before age 7 in terms of short-and long-term results and should not be delayed. As obesity requires care of the entire family, close or recurring contact with the overweight child and its family is important as well as the treatment nearby their residence.

Insulinoma: only in adults?-case reports and literature review.

Insulinomas first presenting as refractory seizure disorders are well documented in adulthood but rarely found in children. Only a few cases of childhood insulinoma have been reported so far. We report on two adolescents with hyperinsulinaemic hypoglycaemia, initially misdiagnosed as epilepsy and migraine accompagnée, and compare those to other cases published.

Comorbidities in overweight children and adolescents: do we treat them effectively?

Objective: The aim was to analyze the effectiveness of treatment concerning obesity-associated comorbidities in clinical practice.

Methods: A total of 11,681 overweight children with ≥ 6-month follow-up treated at 175 centers specialized in pediatric obesity care in Central Europe were included in this analysis (mean body mass index (BMI) 29.0 ± 5.

Does obesity lead to a specific lipid disorder? Analysis from the German/Austrian/Swiss APV registry.

Overweight and obese youth represent a challenge for the affected individual, the healthcare system as well as society as a whole. Increased long-term cardiovascular risk is one of the major consequences of early-onset obesity, affecting both life expectancy and quality of life. The aim of this report is to study the effects of age, gender and obesity category on the presence of individual components of dyslipidemia using normal-weight subjects from the population-based German KIGGS study including 17,641 randomly selected children and adolescents, aged 0-18 years (11,110 normal-weight subjects with lipid measurements) and the German-Austrian-Swiss APV registry, including 57,239 overweight or obese children, adolescents and young adults from 162 specialized obesity care centers (lipid measurements available in 29,711 subjects).

Metformin and placebo therapy both improve weight management and fasting insulin in obese insulin-resistant adolescents: a prospective, placebo-controlled, randomized study.

Objective: To study whether metformin reduces obesity, homeostasis model assessment for insulin resistance index (HOMA-IR), and the metabolic syndrome (MtS) in obese European adolescents in addition to previous unsuccessful lifestyle intervention.

Design And Methods: After 6 months of multiprofessional lifestyle intervention, 70 out of 86 adolescents without improvement in body mass index (BMI) and HOMA-IR were randomized into either the placebo (n=34) or the metformin group (2×500 mg/day, n=36) in addition to ongoing lifestyle intervention for another 6 months.

Results: Age was 13.

Obese boys at increased risk for nonalcoholic liver disease: evaluation of 16,390 overweight or obese children and adolescents.

Objective: Comorbidities of childhood obesity challenge health-care systems in Europe. Further, there is a lack of population-specific prevalence data and diagnostic strategies available, especially for obesity-related disturbances of liver function. Therefore, the prevalence of elevated liver enzymes and their relationship to biological parameters were studied in a large pediatric obesity cohort.

A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.

Context: Activating mutations in the TSHR gene were found in patients suffering from nonautoimmune hyperthyroidism. In the past, it was assumed that thyroid hyperplasia is due to constitutive activation of the Gs/adenylyl cyclase signaling pathway; however, the physiological role of the Gq/11 pathway in this context remains unclear.

Objective: In this study, we investigated molecular details of the TSHR in a patient with nonautoimmune and nongoitrous hyperthyroidism.

Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.

Background: P450c17 has two distinct activities: 17alpha-hydroxylase activity and 17,20-lyase activity. Combined 17alpha-hydroxylase/17,20-lyase deficiency leads to a severe defect in the production of cortisol and sex steroids. In affected males this results in impaired masculinization with ambiguous or female external genitalia.

Do centimetres matter? Self-reported versus estimated height measurements in parents.

Aim: An impressive discrepancy between reported and measured parental height is often observed. The aims of this study were: (a) to assess whether there is a significant difference between the reported and measured parental height; (b) to focus on the reported and, thereafter, measured height of the partner; (c) to analyse its impact on the calculated target height range.

Methods/results: A total of 1542 individual parents were enrolled.

Diet determines features of the metabolic syndrome in 6- to 14-year-old children.

Background/objectives: Insulin resistance (IR) and hypertension are common in overweight children, and the adipocyte-derived hormones resistin, adiponectin, and leptin may modulate IR and blood pressure (BP). Few data exist in children on dietary determinants of IR, BP, or leptin, and no data exist on dietary determinants of resistin and adiponectin. Therefore, the objective of this study was to investigate dietary determinants of IR, BP, resistin, adiponectin, and leptin concentrations, as well as the interrelationship among these variables, in normal and overweight children.

Two-year follow-up in 21,784 overweight children and adolescents with lifestyle intervention.

Although randomized controlled trials demonstrated the long-term efficacy of lifestyle interventions in overweight children, the effects of these interventions in clinical practice under real-life conditions are largely unknown. One hundred twenty-nine centers specialized in outpatient pediatric obesity care participated in this quality assessment. All patients presenting before the year 2006 for lifestyle intervention of at least 6 months duration in these institutions were analyzed in a 2-year follow-up.

Association between foot growth and musculoskeletal loading in children with Prader-Willi syndrome before and during growth hormone treatment.

Objective: To explore how foot growth relates to musculoskeletal loading in children with Prader-Willi syndrome (PWS).

Study Design: In 37 children with PWS, foot length (FL) before and after 6 years of growth hormone therapy (GHT) was retrospectively evaluated with parental and sibling's FL, height, and factors reflecting musculoskeletal loading, such as weight for height (WfH), lean body mass (LBM; dual energy X-ray absorptiometry, deuterium labeled water), physical activity (accellerometry), and walk age. Because of the typically biphasic evolution of body mass and the late walk age in PWS, 2 age groups were separated (group 1, >2.