Published in Journal of Pediatric Endocrinology and Metabolism
Objectives Although at least 598 genes are involved in the development of the hypothalamo–pituitary–testicular (HPT) axis, mutations in only 75 genes have so far been shown to cause delayed puberty. Methods Six male patients with failed puberty, manifested as absence of pubertal changes by 18 years of age, underwent whole exome sequencing of genomi...
Published in Journal of Pediatric Endocrinology and Metabolism
Background The use of stimulant medications for treatment of ADHD has raised concern as to whether they adversely impact linear growth. Previous studies have indicated that stimulant medications may suppress growth for a short period after treatment initiation; however, more information is needed to evaluate the long-term effects on final adult sta...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives To explore the dose-response relationship between physical activity and the improvement of cardiometabolic risks in children with obesity, and provide a reference for the recommendation of physical activity for obese children. Methods A total of 96 children with obesity were recruited to participate in an exercise intervention program. A...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives Nephrocalcinosis is associated with conditions that cause hypercalcemia and the increased urinary excretion of calcium, phosphate, and/or oxalate. A monogenic etiology is found in almost 30% of childhood-onset nephrocalcinosis which is also a common manifestation of primary hyperparathyroidism. We discuss a child with nephrocalcinosis an...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs in a metabolic referral center, focusing on perinatal characteristics and the impact of first the m...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs in a metabolic referral center, focusing on perinatal characteristics and the impact of first the m...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives We aimed to report our 10-year experience of treating short children born small for gestational age (SGA) by comparing the long-term growth, metabolic safety, and cost-effectiveness of recombinant human growth hormone (rhGH) therapy in short children born SGA with those in rhGH-treated children with growth hormone deficiency (GHD) and Tu...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives We aimed to report our 10-year experience of treating short children born small for gestational age (SGA) by comparing the long-term growth, metabolic safety, and cost-effectiveness of recombinant human growth hormone (rhGH) therapy in short children born SGA with those in rhGH-treated children with growth hormone deficiency (GHD) and Tu...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives The objective of our study was to describe the prevalence of gender diverse (GD) youth among adolescents with polycystic ovary syndrome (PCOS). Methods We conducted a retrospective chart review on patients who met NIH criteria for PCOS in our Multidisciplinary Adolescent PCOS Program (MAPP). We compared those with PCOS to MAPP patients w...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives The objective of our study was to describe the prevalence of gender diverse (GD) youth among adolescents with polycystic ovary syndrome (PCOS). Methods We conducted a retrospective chart review on patients who met NIH criteria for PCOS in our Multidisciplinary Adolescent PCOS Program (MAPP). We compared those with PCOS to MAPP patients w...
