Treatment and Follow-up of Non-stress Adrenal Insufficiency.

Adrenal insufficiency (AI) is defined as the inability of the adrenal cortex to produce adequate amounts of glucocorticoids and/or mineralocorticoids. As these hormones have important roles in water-salt balance and energy homeostasis, AI is a serious and potentially life-threatening condition. Glucocorticoid replacement therapy is vital in all cases of AI.

The Causes and Diagnosis of Non-congenital Adrenal Hyperplasia Primary Adrenal Insufficiency in Children.

Primary adrenal insufficiency (PAI) is a critical condition that requires prompt diagnosis and initiation of treatment. Diagnosis can be challenging due to various underlying causes, including defects in adrenal gland development, resistance to adrenocorticotropic hormone, autoimmune causes, and metabolic problems. A specific diagnosis is essential for developing a treatment plan and identifying other possible accompanying pathologies.

Psychosocial Development, Sexuality and Quality of Life in Congenital Adrenal Hyperplasia.

Exposure of the developing brain to androgens during fetal life is known to affect sexual development, including postnatal sex and sexual orientation. However, these relationships are both multifactorial and unpredictable. It is generally assumed that congenital adrenal hyperplasia (CAH) has greater effects in women than in men due to non-physiological adrenal androgen excess.

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.

Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed.

Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (). 21-hydroxylase deficiency has been divided into classical and non-classical forms.

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in . Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.

The Effect of Parental Collaboration on Diabetes Self-Efficacy, Quality of Life and HbA1c Level in Adolescents Diagnosed with Type 1 Diabetes.

Objective: Type 1 diabetes mellitus (T1D) is a chronic disease that is common in childhood and adolescence, where care and metabolic control are difficult for both adolescents and their parents. Parental participation in the care and treatment process, especially during adolescence when adolescents develop autonomy and take responsibility for self-care, affects both the adolescent's perception of autonomy and may cause difficulties in self-management. This study was conducted to determine the effect of parental support on adolescents' self-efficacy, quality of life (QoL) and glycaemic control in adolescents with T1D.

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Unlabelled: Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated.

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation.

Objective: Osteogenesis imperfecta (OI) consists of a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. The aim was to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients using targeted next-generation sequencing (NGS).

Methods: A targeted NGS analysis panel (Illumina TruSight One) containing genes involved in collagen/bone synthesis was performed on the Illumina Nextseq550 platform in patients with a confirmed diagnosis of OI.

Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT?

Objective: Central precocious puberty (CPP) is treated with long-acting gonadotropin releasing hormone (GnRH) analogues (GnRHa). Some adult patients undergoing GnRHa treatment experienced prolonged QT syndrome, which is associated with an increased risk of serious cardiac events, such as myocardial infarction, stroke, arrhythmias, and sudden cardiac death.

Methods: Seventy-four patients, aged between 5 and 11 years and diagnosed with CPP but with no other concomitant disease or medication use, underwent electrocardiogram (ECG) assessment.

The Relationship Between Sleep Quality, Sleep Duration, Social Jet Lag and Obesity in Adolescents.

Objective: The frequency of obesity and poor sleep quality among adolescents is increasing and causes many chronic problems. The objective was to investigate the correlation between body mass index (BMI), sleep quality, sleep duration and social jet lag (SJL) among adolescents.

Methods: This study was cross-sectional.

Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY.

Comprehensive Insights Into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes from a Multicenter Study.

Objective: Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. The aim of this study was to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. A further aim was to highlight the difficulties associated with CPG management.

Assessment of Thyroid Gland in Children with Point-of-Care Ultrasound (POCUS): Radiological Performance and Feasibility of Handheld Ultrasound in Clinical Practice.

Objective: Point-of-Care Ultrasound (POCUS) refers to the use of portable ultrasound machines to perform quick and focused ultrasound examinations at a patient’s bedside or point-of-care. POCUS can be performed by all health workers with specific training to use POCUS. The aim of this study was to investigate the radiological performance and feasibility of POCUS using a handheld ultrasound device (HHUSD) in children for examining the thyroid gland.

Adherence to Growth Hormone Treatment in Children During the COVID-19 Pandemic.

Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence.

Assessment of Executive Function Skills in Children with Isolated Growth Hormone Deficiency: A Cross-sectional Study.

Objective: The aim of this study was to evaluate executive function (EF), such as inhibition and working memory, in children with isolated growth hormone deficiency (IGHD) using performance-based tests and parent-report scales.

Methods: A total of seventy children between the ages of 7 and 12 years were included in the study. Half (n=35) had children with IGHD and half were healthy controls.

Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4.

Objective: The aim was to assess postoperative outcomes in pediatric thyroid nodules with atypia of undetermined significance (AUS/FLUS) or suspicious for a follicular neoplasm (SFN) and their respective the European-Thyroid Imaging Reporting and Data System (EU-TIRADS) scores.

Methods: Forty-four pediatric patients at a single center with thyroid nodules classified as AUS/FLUS or SFN from August 2019 to December 2022 were retrospectively reviewed. Data on demographics, thyroid function, nodule size, and ultrasonographic features were collected.

Serum Ghrelin and Glucagon-like Peptide 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes.

Objective: Prader-Willi syndrome (PWS) and Bardet-Biedl syndrome (BBS) are causes of pediatric syndromic obesity. We aimed to investigate a possible role for ghrelin and glucagon-like peptide-1 (GLP-1) in the pathophysiology of PWS and BBS.

Methods: The study included 12 children with PWS, 12 children with BBS, 13 pediatric obese controls (OC) and 12 pediatric lean controls (LC).

Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric Gene.

In terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency. 11β-OHD has been attributed to diminished enzymatic activity owing to gene variants, mainly encompassing single nucleotide variations and insertions-deletions. The involvement of chimeric genes in 11β-OHD has rarely been reported.

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency.

Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disorder characterized by peripheral thyrotoxicosis and severe cognitive and motor disability due to cerebral hypothyroidism. 3,3’,5-triiodothyroacetic acid (Triac) was shown to improve peripheral thyrotoxicosis but data on neurodevelopmental outcome are scarce. We present a case of MCT8 deficiency and the experience with Triac focusing on change in neurodevelopmental and peripheral features.

Sonographic cortical bone thickness measurement: can it predict bone mineral density in the pediatric population?

Purpose: To explore sonographic cortical bone thickness (CoT) as a potential indicator of bone mineral density (BMD) measured by dual-energy X-ray absorptiometry for screening and diagnosing pediatric osteoporosis.

Methods: A prospective study included 41 osteopenic or osteoporotic patients and 52 healthy children. Radius cortical thickness (R-CoT), tibial cortical thickness (T-CoT), and second metatarsal cortical thickness (M-CoT) were measured by B-mode ultrasound; CoT values were compared between groups and the correlation between BMD and CoT was examined.

Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis.

Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic primary ovarian insufficiency (POI) cases with the gene panel basedon next generation sequencing analysis and to establish the relationship between genotype and phenotype.

Materials And Methods: Twenty three cases aged 14-40 years followed up with POI were included. Patients with a karyotype of 46, XX, primary or secondary amenorrhea before the age of 40, with elevated FSH (>40 IU/mL) and low AMH levels (<0.

Effect of Adrenocorticotropic Hormone Stimulation on Ischemiamodified Albumin Levels .

Objective: Ischemia-modified albumin (IMA) formation is associated with increased reactive oxygen species (ROS) production, while increased cortisol leads to decreased ROS levels. We aimed to evaluate the effect of adrenocorticotropic hormone (ACTH) stimulation on IMA levels and whether the effect was dose-dependent or not.

Methods: A total of 99 subjects with normal ACTH test results were included in the study.

Clinical Variability in a Family with Noonan Syndrome with a Homozygous Gene Variant in Two Individuals.

Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 () gene.