Khan, Sabeen Abid Khan, Anusha Malik, Munir Iqbal
Published in
Journal of Pediatric Endocrinology and Metabolism
Objectives Primary hypertriglyceridemia is a rare condition in children. Hypertriglyceridemia induced pancreatitis is most commonly reported in adults, accounting for third most common cause after gallstones and alcohol consumption. The study aims to highlight the frequency of hypertriglyceridemia induced pancreatitis in a cohort of children presen...
Ozturk, Fatma Nihal Akin Duman, Tugba
Published in
Journal of Pediatric Endocrinology and Metabolism
Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism, mostly caused by PAH gene variants. The aim of this study was to identify the frequency of PAH gene variants in Turkish population with PKU. In 433 patients with PKU, PAH gene was examined using next generation sequencing (NGS) method. IVS10- 11G>A, p.R261Q, p.A30...
Kurban, Sevil Selver Eklioglu, Beray Selver, Muhammed Burak
Published in
Journal of Pediatric Endocrinology and Metabolism
Objectives Diabetes mellitus (DM) is widely known to have a detrimental effect on bone health and is associated with increased fracture risk. Recently, the Wnt/beta-catenin signaling pathway and its inhibitors sclerostin and dickkopf-1 (Dkk-1) were found to be involved in the control of bone mass. The present study aimed to measure serum sclerostin...
Korkmaz, Hüseyin Anıl Özkan, Behzat
Published in
Journal of Pediatric Endocrinology and Metabolism
Obesity is an epidemic disease that can increase the incidence of type 2 diabetes, cardiovascular disease, malignancy, hypertension, and other health problems that affect the musculoskeletal system. There is a complex interaction between obesity and bone metabolism. In children with obesity, the peroxisome proliferator-activated receptor gamma path...
Kırmızıbekmez, Heves Kendir Demirkol, Yasemin Akgün Doğan, Özlem Seymen, Gülcan İnan Balcı, Elif Atla, Pınar Dursun, Fatma
Published in
Journal of Pediatric Endocrinology and Metabolism
Objectives Genetic factors have a key role in childhood obesity with higher rates in children than adults. Among the monogenic types of non-syndromic obesity, melanocortin-4 receptor (MC4R) deficiency is the most frequent cause. Beside pathogenic variants, single-nucleotide polymorphisms in MC4R gene are also associated with lower energy expenditur...
Mosca, Sara M. F. S. Santos, Tiago S. Mendes, Ana C. B. Ribeiro, Luís F. M. Freitas, Joana M. C. Oliveira, Maria J. R. Rocha, Carla A. Borges, Teresa M. S.
Published in
Journal of Pediatric Endocrinology and Metabolism
Background Adrenal insufficiency (AI) is a life-threatening condition caused by an impaired secretion of the adrenal glucocorticoid and mineralocorticoid hormones. It comprises a heterogeneous group of primary, secondary and acquired disorders. Presentation differs according to the child’s age, but it usually presents with nonspecific and insidious...
Çınar, Müge Kılıç Yıldırım, Gonca Kocagil, Sinem Çilingir, Oğuz
Published in
Journal of Pediatric Endocrinology and Metabolism
Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in the PAH gene among the Turkey’s Central Anatolian region. Methods Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and 94 patients whose diagnosis was confirmed by PAH gene analysis (Sanger DNA Sequence Analysis and Next-Gen...
Wade, Caroline Burton, Elvin Thomaseo Akinseye, Leah Nelson, Grace Smith-Young, Jamila Kim, Ahlee
Published in
Journal of Pediatric Endocrinology and Metabolism
Objectives The prevalence of mental health issues has increased at an alarming rate during the COVID-19 pandemic. Furthermore, an exacerbated psychosocial burden in populations with chronic disease is observed. This cross-sectional study evaluated the psychosocial factors of pediatric type 1 diabetes (T1D) during the COVID-19 pandemic. Methods Duri...
Akella, Radha Rama Devi
Published in
Journal of Pediatric Endocrinology and Metabolism
Objective To evaluate the cause of short stature in children. Case presentation Two children with suspected skeletal dysplasia and short stature were evaluated. Conclusions The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. The 3-M syndrome is a geneticall...
Giri, Dinesh Hawton, Katherine Senniappan, Senthil
Published in
Journal of Pediatric Endocrinology and Metabolism
Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia in the neonatal period and early childhood. Mutations in 16 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, KCNQ1, ...
