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 (CYP21A2). 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 (21OHD) caused by mutations in CYP21A2. Although 21OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.

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.

Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.

Context: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology.

Objective: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin.

A case of prohormone convertase deficiency diagnosed with type 2 diabetes.

Prohormone convertase 1/3, encoded by the proprotein convertase subtilisin/kexin type 1 gene, is essential for processing prohormones; therefore, its deficiency is characterized by a deficiency of variable levels in all hormone systems. Although a case of postprandial hypoglycemia has been previously reported in the literature, prohormone convertase insufficiency with type 2 diabetes mellitus has not yet been reported. Our case, a 14-year-old girl, was referred due to excess weight gain.

Corneal Biomechanical Properties in Childhood Obesity.

Purpose: To investigate corneal biomechanical properties in patients with childhood obesity.

Methods: The study included 47 patients with childhood obesity (study group) and 39 healthy patients (control group). Corneal hysteresis, corneal resistance factor, corneal compensated intraocular pressure (IOPcc), and Goldmann-correlated IOP (IOPg) were measured with the Ocular Response Analyzer (Reichert, Ophthalmic Instruments, Buffalo, NY) in each eye.

Gastrointestinal symptoms in pediatric patients with type 1 diabetes mellitus.

Background Various gastrointestinal (GI) symptoms are associated with diabetes. Common GI complaints associated with the manifestation of the disease include abdominal pain, diarrhea, nausea, bloating and vomiting. There have been very few studies examining GI problems of pediatric patients with type 1 diabetes mellitus (T1DM).

Oxidative stress markers, trace elements, and endocrine disrupting chemicals in children with Hashimoto's thyroiditis.

In this study, we aimed to investigate whether bisphenol A (BPA) and di-(2-ethylhexyl) phthalate (DEHP) exposure have any association with Hashimoto's thyroiditis (HT) and its biomarkers and to determine whether oxidative stress biomarkers and trace element levels showed any alterations in children with HT. We found that superoxide dismutase and glutathione peroxidase activities are lower in HT group from control (24% and 46%, respectively,  < 0.05).

A Novel Mutation in the Gene Causing Congenital Nephrogenic Diabetes Insipidus.

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 () gene. Our objective is to report a novel mutation in the gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions.

Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test.

Background: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months.

Choroidal Thickness in Childhood Obesity.

Background And Objective: To evaluate the effects of obesity on choroidal thickness (CT) in childhood.

Patients And Methods: Forty-four patients with obesity (study group) and 42 healthy children (control group) were enrolled in the study. Subjects underwent a complete ocular examination.

Ocular manifestations of Type 1 diabetes mellitus in pediatric population.

Context: To evaluate the necessity of ocular screening in Type 1 diabetes mellitus (DM).

Aims: This study aims to investigate the diabetes-related ocular changes according to the glycosylated hemoglobin (HbA1c) level and duration of diabetes in children and compare the results with nondiabetic healthy children.

Settings And Design: Observational cross-sectional study designed by ophthalmology and pediatric endocrinology clinics.

The effects of type 1 diabetes mellitus on cardiac functions in children: evaluation by conventional and tissue Doppler echocardiography.

Background: Several studies have pointed out the existence of cardiac dysfunction in patients with type 1 diabetes mellitus (DM) even in the absence of ischemic, valvular, or hypertensive heart disease. The present study evaluated cardiac dysfunction and the relationship between severity of disease and degree of cardiac dysfunction in children with type 1 DM.

Methods: In this prospective study, 31 patients with type 1 DM and 33 sex- and age-matched healthy children were evaluated with conventional echocardiography and tissue Doppler echocardiography (TDE).

The evaluation of possible role of endocrine disruptors in central and peripheral precocious puberty.

Exposure to environmental chemicals can affect genetic and epigenetic molecular pathways and may cause altered growth and development. Among those exposures, endocrine-disrupting chemicals (EDCs) are of particular concern as humans are abundantly exposed to these chemicals by various means in every period of life. Several well-known environmental chemicals, including phthalates and bisphenol A (BPA), are classified as EDCs.

Cushing's syndrome: hidden risk in usage of topical corticosteroids.

Iatrogenic Cushing's syndrome in children may occur as a result of the application of exogenous steroids. Prolonged use of powerful corticosteroids suppresses adrenal functions and iatrogenic Cushing's syndrome may develop particularly in infants who are given topical corticosteroids. We report here a case on three infants having Cushing's syndrome with similar clinical presentations due to overuse of topical steroids for diaper dermatitis.