Bone Mineral Density and Trabecular Bone Score in Children, Adolescents and Young Adults with Familial Dysautonomia.

Familial dysautonomia (FD) is characterized by skeletal morbidity, including osteoporosis and increased fracture risk. We aimed to assess bone mineral density (BMD) and trabecular bone score (TBS) in individuals with FD, and to explore correlations with disease severity. This retrospective study included all the patients with FD who performed at least one dual-energy X-ray absorptiometry (DXA) scan at our institution during 2015-2023.

Controlled ovarian stimulation for oocyte preservation in childhood cancer survivors who have undergone chemotherapy.

Study Question: What are the outcomes of controlled ovarian stimulation (COS) in childhood cancer survivors (CCS) undergoing fertility preservation (FP) after cancer treatment?

Summary Answer: CCS who have undergone chemotherapy often show poor outcomes with COS and may need multiple cycles to achieve an adequate number of oocytes for future pregnancy.

What Is Known Already: Up to 65% of CCS experience infertility from gonadotoxic treatments. Although it is ideal to consider FP at diagnosis, age and oncological factors often limit this option.

Catabolic to anabolic transition during nutritional rehabilitation of female adolescents with anorexia nervosa.

Anorexia nervosa (AN) is associated with profound changes in glucose homeostasis, activity of the GH-IGF-1 axis, and adipose tissue, bone, and protein metabolism. We aimed to characterize the transition from a catabolic to anabolic state during the nutritional rehabilitation of female adolescent inpatients with AN. The study comprised 41 patients (aged 15.

Bone health and bisphosphonate treatment in females with Rett syndrome in a national center.

Background: Impaired bone health is a common morbidity in Rett syndrome (RTT). We aimed to assess lumbar bone mineral density (BMD) and trabecular bone score (TBS) in females with RTT, and to evaluate the effectiveness of bisphosphonate treatment.

Methods: This retrospective study included 40 females with RTT, aged 5-22 years, who underwent dual-energy X-ray absorptiometry (DXA) scans during 2019-2024 at a national center for RTT.

Imaging Assessment of the Pituitary Gland and Long-Term Endocrinological Abnormalities in Pediatric Brain Cancer Survivors.

Background: Pediatric brain cancer survivors often experience hypothalamic-pituitary dysfunction due to cranial irradiation and chemotherapy. While hormone deficiencies have been studied, the changes in pituitary size and shape on long-term MRI and their relationship to endocrine dysfunction remain under-explored.

Purpose: To evaluate pituitary gland height, volume, and shape in relation to long-term endocrine abnormalities in pediatric brain tumor survivors.

Interindividual variation in ovarian reserve after gonadotoxic treatment in female childhood cancer survivors - a genome-wide association study: results from PanCareLIFE.

Objective: To discover new variants associated with low ovarian reserve after gonadotoxic treatment among adult female childhood cancer survivors using a genome-wide association study approach.

Design: Genome-wide association study.

Setting: Not applicable.

Predictive factors for radiation-induced pituitary damage in pediatric patients with brain tumors.

Background And Purpose: Multiple studies demonstrated hypothalamic-pituitary dysfunction in survivors of pediatric brain tumors. However, few studies investigated the trajectories of pituitary height in these patients and their associations with pituitary function. We aimed to evaluate longitudinal changes of pituitary height in children and adolescents with brain tumors, and their association with endocrine deficiencies.

Short Stature and Distinct Growth Characteristics in Angelman Syndrome.

Introduction: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by severe impairments in speech, cognition, and motor skills accompanied by unique behaviors, distinct facial features, and high prevalence of epilepsy and sleep problems. Despite some reports of short stature among AS patients, this feature is not included in the clinical criteria defined in 2005. We investigated growth patterns among AS patients with respect to mutation type, growth periods, family history, and endocrine abnormalities.

Impact of COVID-19 on Lifestyle Habits and Emotional State of Childhood Cancer Survivors and Their Parents.

Objective: The COVID-19 pandemic and associated social distancing measures affected the physical and emotional state of children and parents worldwide. Survivors of childhood cancer may be particularly vulnerable to these effects. We aimed to evaluate the lifestyle habits and emotional states of childhood cancer survivors and their parents during the COVID-19 outbreak.

Fracture risk among children and adolescents with celiac disease: a nationwide cohort study.

Background: Metabolic bone disease is a common manifestation of celiac disease (CD). We aimed to assess fracture risk among children and adolescents with CD compared with a matched group.

Methods: This registry-based cohort study included 2372 children with CD who were matched 1:5 to 11,860 children without CD.

Increased fracture risk among children diagnosed with attention- deficit/hyperactivity disorder: a large matched cohort study.

To analyse the risk of fractures among children with attention-deficit/hyperactivity disorder (ADHD) compared with matched children without ADHD; and to evaluate the impact of pharmacological treatment. This registry-based cohort study included 31,330 children diagnosed with ADHD and a comparison group of 62,660 children matched by age, sex, population sector and socioeconomic status. Demographic and clinical information was extracted from the electronic database of Meuhedet, a health maintenance organization.

Growth hormone treatment and the risk of adolescent scoliosis: A large matched cohort study.

Aim: We aimed to evaluate the risk of developing adolescent scoliosis among recipients of recombinant human growth hormone (rhGH).

Methods: This registry-based cohort study included 1314 individuals who initiated rhGH treatment since 2013, treated during 10-18 years of age for at least 6 months. This group was matched to a comparison group of 6570 individuals not treated with rhGH.

Hypothalamic-pituitary-gonadal function, pubertal development, and fertility outcomes in male and female medulloblastoma survivors: a single-center experience.

Background: Endocrine deficiencies, including hypothalamic-pituitary-gonadal axis (HPGA) impairment, are common in survivors of childhood and adolescent medulloblastoma. Still, data regarding pubertal development and fecundity are limited, and few studies assessed HPGA function in males. We aimed to describe HPGA function in a large cohort of patients with medulloblastoma.

Decreases in pediatric fractures during the COVID-19 pandemic - a nationwide epidemiological cohort study.

The COVID-19 pandemic led to fundamental changes in daily routines of children. Our aim was to evaluate the incidence and characteristics of fractures among Israeli children during 2020 compared with 2015-2019. Demographic, clinical data, and incidence rates of fractures in individuals aged < 18 years were derived from the electronic database of Meuhedet Health Services, which provides healthcare services to 1.

Changes in trabecular bone score and bone density in female adolescents with anorexia nervosa: a longitudinal study.

Impaired bone health is a common complication of anorexia nervosa (AN). We aimed to assess longitudinal changes in bone mineral density (BMD) and trabecular bone score (TBS), a measure of bone quality, in female adolescents with anorexia nervosa (AN). We conducted a retrospective longitudinal study of 41 female adolescents with AN who underwent two dual-energy X-ray absorptiometry (DXA) scans.

Dual diagnosis of type 1 diabetes mellitus and attention deficit hyperactivity disorder.

Background: Data regarding glycemic control in children and adolescents with a dual diagnosis of type 1 diabetes mellitus (T1DM) and attention-deficit/hyperactivity disorder (ADHD) are limited.

Objective: To compare various aspects of diabetes control among youth with T1DM, between those with and without ADHD.

Methods: In this cross-sectional study of youth with T1DM, 39 had ADHD (mean age 14.

Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function.

Study Question: Do genetic variations in the DNA damage response pathway modify the adverse effect of alkylating agents on ovarian function in female childhood cancer survivors (CCS)?

Summary Answer: Female CCS carrying a common BR serine/threonine kinase 1 (BRSK1) gene variant appear to be at 2.5-fold increased odds of reduced ovarian function after treatment with high doses of alkylating chemotherapy.

What Is Known Already: Female CCS show large inter-individual variability in the impact of DNA-damaging alkylating chemotherapy, given as treatment of childhood cancer, on adult ovarian function.

Trabecular Bone Score in Children and Adolescents With Inflammatory Bowel Diseases.

Introduction: Trabecular bone score (TBS) is a textural index that evaluates bone microarchitecture of the lumbar spine. Our aim was to assess TBS in children with inflammatory bowel diseases and to evaluate correlations with clinical, laboratory and densitometric variables.

Methods: A retrospective study of TBS and areal bone mineral density measurements by dual-energy X-ray absorptiometry (DXA) of children with either Crohn's disease (CD) or ulcerative colitis (UC).

Questioning the Value of Brain Magnetic Resonance Imaging in the Evaluation of Children with Isolated Growth Hormone Deficiency.

Background: Isolated growth hormone deficiency (IGHD) is a relatively common disorder. Current diagnostic protocol requires a brain magnetic resonance imaging (MRI) study of the hypothalamus and the hypophysis to determine the cause after establishment of the diagnosis. This study aimed to examine the yield of brain MRI in the evaluation of children with IGHD and to define clinical and laboratory parameters that justify its performance.

Prospective Longitudinal Assessment of Linear Growth and Adult Height in Female Adolescents With Anorexia Nervosa.

Context: Growth retardation is an established complication of anorexia nervosa (AN); however, findings concerning the adult height of AN patients are inconsistent.

Objective: The objective of this work was to assess linear growth and adult height in female adolescents with AN.

Design And Setting: A prospective observational study was conducted in a tertiary university hospital.

Resting energy expenditure in acutely ill and stabilized patients with anorexia nervosa and bulimia nervosa.

Objective: Determining resting energy expenditure (REE) may be important in the nutritional assessment of adolescents with eating disorders (EDs). Calculated equations assessing REE, developed according to data from healthy people, may under- or overestimate REE in EDs. We have sought to compare the REE measured in clinical settings to that calculated using equations in actively ill adolescents with anorexia nervosa (AN) and bulimia nervosa (BN), and following stabilization of weight and disordered eating.