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.

Inequalities in Access to Diabetes Technologies in Children with Type 1 Diabetes: A Multicenter, Cross-sectional Study from Türkiye.

Objective: To determine inequalities in access to diabetes technologies and the effect of socioeconomic factors on families with children with type 1 diabetes.

Methods: In this multicenter cross-sectional study, parents of children with type 1 diabetes completed a questionnaire about household sociodemographic characteristics, latest HbA1c values, continuous glucose monitoring (CGM) and insulin pump use of children, the education and working status of parents. These characteristics were compared between technology use (only-CGM, only-pump, CGM+pump, no technology use).

Emergency medical service use at a pediatric center in Turkey, during the COVID-19 pandemic period.

Aim: This study aimed to evaluate aspects of pediatric patients presenting to a hospital in Turkey via emergency ambulance services, including incidence of visits to the hospital, acuity of illness and most common diagnoses, during the one-year period before and after the onset of the coronavrrus dsease 2019 (COVID-19) pandemic.

Methods: This was a retrospective and single center analysis of children, transported by Emergency Medical Services to the Emergency Department (ED) of a children's hospital in Turkey, between 10 March 2019 and 11 March 2021.

Results: Percentage of high acuity group (68.

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.

Tubulointerstitial Nephritis and Uveitis Syndrome During the COVID-19 Pandemic: A Case Series.

Objectives: To report the ocular findings, laboratory results, and management of patients with tubulointerstitial nephritis and uveitis syndrome (TINU), whose numbers increased during the 2019 coronavirus disease (COVID-19) pandemic.

Materials And Methods: Demographic characteristics, ophthalmic examination findings, laboratory results including polymerase chain reaction (PCR) test for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), serum SARS-CoV-2 immunoglobulin G (IgG) antibody, and treatment of patients diagnosed with TINU between March 2020 and March 2022 were evaluated retrospectively.

Results: The study included 19 eyes of 10 patients (6 female/4 male).

Comparison of mothers of adolescents diagnosed with type 1 diabetes mellitus and mothers of healthy adolescents in terms of difficulty in emotion regulation, depression and anxiety levels and clinical variables.

Background: The aim of our study was to evaluate the difficulty in emotion regulation, depression and anxiety levels of mothers with a child diagnosed with type 1 diabetes mellitus (T1DM) compared to mothers of the non- T1DM control group.

Methods: Our study included 72 adolescents followed up with T1DM and 72 healthy adolescents and their mothers. Psychiatric evaluation of children was performed according to DSM-IV diagnostic criteria.

Role of serostatus in pediatric neuromyelitis optica spectrum disorders: A nationwide multicentric study.

Background: Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory disorders of the central nervous system (CNS) mostly presenting as optic neuritis and acute myelitis. NMOSD can be associated with seropositivity for aquaporin 4 antibody (AQP4 IgG), myelin oligodendrocyte glycoprotein antibody (MOG IgG), or can be seronegative for both. In this study, we retrospectively examined our seropositive and seronegative pediatric NMOSD patients.

Aspects of autism spectrum disorder and correlation with neuroimaging findings in tuberous sclerosis complex.

Background: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD.

Evaluation of chronic cough etiology, quality of life, and anxiety level in children.

Introduction: To evaluate the quality of life and anxiety level of school-age children with chronic cough, and changes with treatment.

Materials And Methods: Patients aged between 6-18 years with a chronic cough were included in this study. A control group was designed, and the scale scores were compared with each other.

Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting phenotypic heterogeneity. It is a clinically diagnosed disease supported by gene mutation analysis. However, the phenotype-genotype correlation is not yet established clearly.

A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II.

Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only.