Minipuberty in girls with Turner syndrome provides insight into reproductive potential-a prospective cohort study.

Objective: To study reproductive hormone levels during minipuberty in girls with Turner syndrome and compare with girls without Turner syndrome.

Design: Prospective cohort study.

Subjects: Infant girls with Turner syndrome.

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.

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.

Hematological Evaluation and Management of Menorrhagia in Adolescents: Lessons from Adolescent Heavy Menstrual Bleeding Clinics.

Introduction: Heavy menstrual bleeding (HMB) poses a significant concern among adolescents and can arise from bleeding disorders. This study aimed to compare the clinical presentations and treatment of adolescents with HMB, distinguishing those with and without an underlying bleeding disorder.

Methods: We conducted a retrospective analysis of adolescent patients presenting with HMB during 2014-2022 at specialized hematology-adolescent clinics in two tertiary referral hospitals in Israel.

Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes.

Aim: To assess the prevalence of endocrine disorders and investigate growth patterns in single large-scale mitochondrial DNA deletion syndromes (SLSMDs).

Methods: A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.

Results: The cohort included 18 individuals (9 males).

Group Support for Parents of Girls with Turner Syndrome-A Pilot Study.

Study Objective: Parents of girls with Turner syndrome (TS) are coping with various challenges associated with caring for a child with a genetic disorder. We aimed to explore the importance of group support for parents of girls with TS in a small pilot study.

Methods: Group support sessions for parents of girls with TS were divided into meetings regarding psychological aspects, medical aspects, and social aspects.

Paper waste and carbon emissions from oral contraceptive leaflets.

Oral contraceptives (OC) are the most used form of contraception among women in the U.S. and Europe.

Real-Life Achievements of MiniMed 780G Advanced Closed-Loop System in Youth with Type 1 Diabetes: AWeSoMe Study Group Multicenter Prospective Trial.

We assessed real-life glycemic outcomes and predictors of composite measures of optimal glycemic control in children and adolescents with type 1 diabetes (T1D) during their initial 12 months of the MiniMed™ 780G use. This prospective observational multicenter study collected demographic, clinical, and 2-week 780G system data at five time points. Optimal glycemic control was defined as a composite glycemic control (CGC) score requiring the attainment of four recommended continuous glucose monitoring (CGM) targets, as well as the glycemia risk index (GRI) of hypoglycemia and hyperglycemia and composite CGM index (COGI).

The Effect of COVID-19 on Type 1 Diabetes Occurrence among Children and Adolescents: A Multicenter Prospective Observational Cohort Study in Israel.

Aim: The effect of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on the pediatric occurrence of type 1 diabetes (T1D) is inconclusive. We aimed to assess associations between seroprevalences of the distinct anti-SARS-CoV-2 antibodies and T1D occurrence in children and adolescents.

Methods: This multicenter prospective observational cohort comprised children diagnosed with T1D between October 2020 and July 2022 and unrelated children who performed endocrine tests (control group) in a 1 : 3 ratio.

The Mediterranean Diet for Adolescents with Type 1 Diabetes: A Prospective Interventional Study.

The Mediterranean diet (MED) is highly recommended. Medical nutrition therapy is the cornerstone of diabetes treatment. The primary outcome was to evaluate the change in micronutrient intake of youth with type 1 diabetes before and after a 6-month MED intervention; we also assessed adherence and glycemic control.

Virtual reality's impact on children with type 1 diabetes: a proof-of-concept randomized cross-over trial on anxiety, pain, adherence, and glycemic control.

Aims:  Assess the effectiveness of virtual reality (VR) technology, in reducing pain and anxiety, and improving adherence and glycemic control among children with type 1 diabetes (T1D).

Methods: Children with T1D, managed with continuous glucose monitoring and insulin pumps, were recruited for a randomized cross-over trial. Children were randomized to one of two interventions for diabetes management: group 1 used VR glasses first and group 2 listened to vocal-guided affective imagery first (audio).

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.

Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.

Research Question: Can ovarian reserve parameters predict the outcome of ovarian tissue cryopreservation (OTCP) in patients ≤18 years with non-iatrogenic premature ovarian insufficiency (POI)?

Design: Retrospective cohort analysis carried out in a single tertiary hospital between August 2010 and January 2020. Thirty-seven patients ≤18 years with non-iatrogenic POI (27 with Turner syndrome, six with POI of unknown aetiology, three with galactosemia and one with blepharophimosis, ptosis, epicanthus inversus syndrome) were included. Three parameters were used to evaluate ovarian reserve: anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH) and transabdominal antral follicle count.

The Impact of a Low-Carbohydrate Diet on Micronutrient Intake and Status in Adolescents with Type 1 Diabetes.

Objective: The aim of this study was to evaluate the macronutrient and micronutrient intake and status in youth with type 1 diabetes mellitus (T1DM) following the consumption of a low-carbohydrate diet (LCD).

Research Methods And Procedures: In a prospective intervention clinical trial, adolescents with T1DM using a continuous glucose monitoring device were enrolled. Following a cooking workshop, each participant received a personalized diet regime based on LCD (50-80 g carbohydrate/day).

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric subspecialties, it is not yet routinely used by general pediatric hospitalists. We aim to investigate the impact of exome sequencing in sequencing-naive children suspected of having monogenic disorders while receiving inpatient care.

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.

Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.

Purposeof Review: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed.

Recent Findings: Wolfram syndrome, Kearns-Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision.

Female fragile X premutation carriers are at increased risk for metabolic syndrome from early adulthood.

Background And Aims: Women with primary ovarian insufficiency exhibit an unfavorable cardiovascular risk profile. A common cause for primary ovarian insufficiency is fragile X premutation (FXPC), and data on the cardiovascular risk factors in women with FXPC are scarce. We aimed to assess the prevalences of abnormal metabolic components among FXPC.

The Gut Microbiome of Adults With Type 1 Diabetes and Its Association With the Host Glycemic Control.

Objective: Previous studies have demonstrated an association between gut microbiota composition and type 1 diabetes (T1D) pathogenesis. However, little is known about the composition and function of the gut microbiome in adults with longstanding T1D or its association with host glycemic control.

Research Design And Methods: We performed a metagenomic analysis of the gut microbiome obtained from fecal samples of 74 adults with T1D, 14.

Fatty acid-binding protein 4: a key regulator of ketoacidosis in new-onset type 1 diabetes.

Aims/hypothesis: Fatty acid-binding protein 4 (FABP4) is an adipokine with a key regulatory role in glucose and lipid metabolism. We prospectively evaluated the role of FABP4 in the pathophysiology of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes.

Methods: Clinical and laboratory data were prospectively collected from consecutive children presenting with new-onset type 1 diabetes.

Prediction of Personal Glycemic Responses to Food for Individuals With Type 1 Diabetes Through Integration of Clinical and Microbial Data.

Objective: Despite technological advances, results from various clinical trials have repeatedly shown that many individuals with type 1 diabetes (T1D) do not achieve their glycemic goals. One of the major challenges in disease management is the administration of an accurate amount of insulin for each meal that will match the expected postprandial glycemic response (PPGR). The objective of this study was to develop a prediction model for PPGR in individuals with T1D.