Editor’s page

We welcome you to another stimulating issue of JPED, covering a selection of original articles, case series and reports, images, narrative reviews, fellow’s corner and journal updates. We hope these articles will intellectually motivate readers, especially postgraduate students and fellows in training.

In our regular series titled “Genetics for the Pediatric Endocrinologist,” Ruchi Nadar et al., Birmingham, UK, discuss the genetic basis of growth hormone (GH) deficiency. GH deficiency (GHD) may occur either as isolated GHD (IGHD) or multiple pituitary hormone deficiency. The GH1 and GHRHR genes associated with familial IGHD were identified in the 1980s, followed by PROP1, POU1F1, LHX3, and LHX4. The inventory of genes implicated in GHD has further increased and has helped in a better understanding of fetal hypothalamic and pituitary development, as well as intracellular signaling pathways. There is considerable commonality in clinical findings associated with different genes. The authors discuss the diagnostic approach based on clinical presentations and radiological findings. The importance of genetic testing in clinical practice in the diagnostic evaluation of GHD is reviewed.

Priyanka Gupta and Vandana Jain, from New Delhi, India, in a “Narrative review,” discuss catch-up growth (CUG) in low birth weight (LBW) infants. The term CUG is most often used in the context of the upward growth trajectory seen in the initial months of life in babies born LBW due to prematurity and/or intrauterine growth restriction. CUG decreases the prevalence of undernutrition and infection during early life and improves neurocognitive outcomes in preterm infants. On the contrary, excessive catch-up may lead to increased risk of obesity and metabolic syndrome in later life. Thus, caution is needed while planning the nutritional strategies for infants born with LBW. In this review, the authors discuss the current definitions of CUG, its benefits, adverse effects, and pathophysiology, as well as strategies for monitoring growth in infants born LBW to ensure optimal CUG management.

Dhanya Soodhana et al. from Kozhikode, India, in an “Original article,” address the importance of empowering school teachers and the impact of a training program on the management of type 1 diabetes mellitus (T1DM) for school teachers. This study evaluated 80 teachers teaching 97 children with T1DM before and after a training program. The authors noted that a focused training session significantly improved the knowledge scores among teachers regarding T1DM. School-based diabetes education is essential for ensuring the safety and well-being of children with diabetes.

In an accompanying “Editorial commentary,” Ganesh Jevalikar and Arpan Uppal, New Delhi, India, examine how we can address this issue of making Indian schools T1DM-friendly. We need high-quality studies to define the baseline status of existing support for children with T1DM in schools. To make schools truly type 1 diabetes friendly, teachers must be empowered through regular diabetes training. Schools should be supported to establish basic health infrastructure that includes a separate glucose testing area, a sharps disposable unit, and an emergency hypoglycemia kit, and must adopt models such as cluster nursing (wherein a trained nurse oversees diabetes care across a group of nearby schools) or teleconsultation with pediatric endocrinologists for expert guidance. Each child should have an individualized diabetes care plan, cosigned by parents and endocrinologists, backed by legal safeguards under the “Right to Education Act.”

In another original article, Eilidh Claire Mulhern et al. from Glasgow, UK, describe a cohort study on socioeconomic status influencing the cessation of insulin pump therapy in children with T1DM from Scotland. Most patients stopped using insulin pumps as a management strategy for T1DM due to poor blood glucose control or patient preference. More patients who stopped insulin pump therapy were from deprived areas than affluent areas. The cause of this is unclear and likely multifactorial. Further studies are needed to study the reasons for insulin pump cessation.

Caroline Ponmani and Sankar Kanumakala, from London, UK, in an editorial commentary, look at insulin pump therapy and health inequalities in children with T1DM. Poor health outcomes in economically deprived populations are multi-dimensional, with various factors influencing overall glycemic control. Patients and families from deprived areas require additional support, both initially and over time. Developing guidelines for focused education and training at pump initiation, tailored to their existing knowledge and age, would be beneficial. Appropriate use of psychology services can increase the resilience and success rates, as advances in technology are rarely a replacement for poor motivation and poor self-care. The operating health care systems and expenses associated with T1DM care are critical factors in countries, including India, where funded health care is not fully operational.

Diabetic ketoacidosis is rare in infants, and the current standard treatment is the traditional two-bag method. In “Case series,” Faith Christina Harris et al. from Georgia, USA effectively treated children with T1DM under 2 years with a computerized algorithm, the Glucommander^®. Target blood glucose levels were achieved earlier than usual, and the time to correction of metabolic acidosis was shorter. Glucommander^® is not yet approved by the United States Food and Drug Administration for patients under 2 years. Through this study, the authors wish to demonstrate the safety of Glucommander^® as a treatment option in this age group.

We have four very interesting “Case reports” lined up for you. Denosumab is currently used as an off-label therapy for the treatment of pediatric aneurysmal bone cysts. Severe hypercalcemia after cessation of denosumab therapy is reported in a few case reports. We need to understand the causative factors, management options, and preventive strategies of rebound hypercalcemia after denosumab withdrawal in pediatric patients. V Shobi Anand from Coimbatore, India, describes an 8-year-old male child who presented with severe rebound hypercalcemia 3 months post cessation of denosumab therapy.

A rare type of 46,XY disorder of sex development (DSD), persistent Müllerian duct syndrome is characterized by Müllerian duct derivatives in patients who are male both genotypically and phenotypically. Haripriya and colleagues from Bengaluru, India, present a case report of a 4-year-old child with a delayed diagnosis of 46,XY DSD. Early treatment is required to maintain fertility and avoid malignancy in the remaining Müllerian derivatives.

Aldosterone synthase deficiency is a rare autosomal recessive disorder due to CYP11B2 gene mutations, presenting with life-threatening salt-wasting in infancy. Corticosterone methyl oxidase (CMO) II deficiency is a subtype characterized by low aldosterone and elevated 18-hydroxycorticosterone. Bhargav G Patel and Ruchi A Shah from Ahmedabad, India, report a 7-month-old Indian male infant with failure to thrive, hyponatremia, hyperkalemia, and developmental delay. Whole exome sequencing identified compound heterozygous CYP11B2 mutations, confirming CMO II deficiency.

Ruchi A Shah et al. from Ahmedabad, India, report a 16-year-old girl with a heterozygous mutation in the INSR gene leading to monogenic insulin resistance diabetes. She was treated as T1DM for 2 years before the final diagnosis. The possibility of other types of diabetes should be considered in a child or an adolescent with negative autoantibodies when there is a significant family history of youth-onset diabetes in previous generations, early onset, and unusually high or low requirement of insulin, other syndromic features, or history of use of drugs such as glucocorticoids or tacrolimus. Metformin therapy led to improved glycemic control, reduced insulin need, as well as improvement in secondary sexual characteristics.

In the “Spotters” category, Jaladhi V Bhatt et al. from Ahmedabad, India, describe a 10-month-old girl with central precocious puberty due to hypothalamic hamartoma. She received treatment with gonadotropin-releasing hormone analog, leuprolide acetate.

Under the series, “Fellows Corner,” Sri Nikhita Chimatapu, Houston, USA, reflects on her training and early career, highlighting the mentorship, research, and leadership opportunities that have shaped her career path. She discusses her contributions in academia, as well as her experiences in health innovation and leadership within professional societies. By sharing these reflections, she hopes to provide practical insight for trainees who are exploring how to build meaningful and multidimensional careers in pediatric endocrinology.

In our regular feature on “Ped Endo Journal Scan” Kriti Joshi, Brisbane, Australia, discusses five recent fascinating publications. The first is a study on the efficacy and safety of tirzepatide in children and adolescents with type 2 diabetes (SURPASS-PEDS): A randomised, double-blind, placebo-controlled, phase 3 trial. The second review highlights the role of insulin for early glycemic abnormality in children with cystic fibrosis without cystic fibrosis-related diabetes: A randomized controlled trial. The third study details how GH treatment can be adjusted for GH sensitivity in idiopathic short stature. The fourth commentary describes the gonadal Function and its evolution in 46,XX testicular/ovotesticular DSD. The fifth study reviews the benefits of adjunct-to-insulin therapy using sodium-glucose transport 2 inhibitors in youth with T1DM, a randomized controlled trial. The editors hope these new research publications will add insights into better and optimal management of children with chronic endocrine disorders.

We have endeavored our best to present to you a variety of interesting clinical situations requiring astute observations, clinical acumen, and supportive laboratory in the diagnosis and management of common and not-so-common endocrine situations. We look forward to your comments and suggestions and welcome contributions to the forthcoming issues of our journal.

Happy reading!