Editor’s page

We welcome you to yet another interesting issue of JPED, covering a selection of Review Articles, editorial commentaries, original articles, case reports, images, fellows’ corner, and journal updates. We hope that these articles will intellectually stimulate readers, especially postgraduate students and fellows in training.

In our series of “Review Articles” titled “Genetics for the Pediatric Endocrinologists,” Bhanushali and Kaur from Chandigarh, India, discuss when to order genetic tests in pediatric endocrinology; their indications, modalities, interpretations, and practical pitfalls.^[1] Genetic testing helps in establishing the etiology, guides targeted therapy, refines prognosis, and enables appropriate genetic counseling. The available tests include cytogenetics, molecular cytogenetics, and molecular sequencing techniques. A good understanding of the genetic basis of the disorder and careful consideration of the strengths and limitations of each method are crucial for making an optimal choice of tests. The authors exemplify the choices by providing a set of interesting case scenarios.

Non-nutritional or refractory rickets encompass a heterogeneous group of inherited and acquired disorders characterized by defective bone mineralization independent of dietary vitamin D or calcium deficiency. In a second “narrative review,” Bala et al. from Chandigarh, India, synthesize current evidence on the pathophysiology, clinical presentation, biochemical and radiological diagnosis, and management of the principal non-nutritional rickets subtypes, including X-linked hypophosphatemic rickets, autosomal dominant/recessive hypophosphatemic rickets, hereditary hypophosphatemic rickets with hypercalciuria, tumor-induced osteomalacia, vitamin D-dependent rickets, and hypophosphatasia.^[2] Diagnostic algorithms and comprehensive comparison tables are provided to guide clinicians in timely identification and individualized treatment, aiming to improve long-term musculoskeletal and quality-of-life outcomes in affected children. Early molecular diagnosis, enabled by targeted gene panels and complementary biochemistry, is critical to directing appropriate therapy. The transformative role of burosumab (anti-FGF23 monoclonal antibody) and asfotase alfa (enzyme replacement therapy) is highlighted alongside emerging molecular therapies. Despite these advances, significant challenges persist in global inequities in access to biologics, especially in resource-limited settings, and in the lack of multidisciplinary care.

Under the category of “Original articles,” de Almagro et al. from Florida, United States, present a timely cross-sectional comparison of health-related quality of life (HRQoL) in pediatric patients with type 1 diabetes (T1D) using multiple daily injections versus automated insulin delivery (AID) systems in a predominantly Hispanic cohort in the United States.^[3] Their work addresses an important gap by focusing on an underrepresented population and by employing a validated diabetes-specific HRQoL instrument. The central finding is striking—despite superior glycemic outcomes in the AID system group (lower glycated hemoglobin and greater time-in-range), overall HRQoL did not differ significantly between treatment modalities. This discordance challenges a technology-centered narrative that equates metabolic success with psychosocial progress. The study further identifies age and gender as major determinants of HRQoL. Male participants reported higher perceived diabetes management and overall quality of life than females, and HRQoL varied across different ages. These findings reinforce the importance of demographic and developmental factors in shaping patient-reported outcomes, often overshadowing the influence of treatment modality itself. Importantly, the study underscores the importance of socioeconomic and cultural considerations.

In an accompanying “Editorial commentary,” Priyambada, Hyderabad, India, reminds us that HRQoL in T1D depends not only on the glycemic outcome of the overall diabetes management, including advanced technology, but also on the lived experience of the disease.^[4] The assumption that incorporation of advanced technology will improve HRQoL is not absolute. AID systems improve precision and increase treatment satisfaction but require competence in troubleshooting technical issues; they may increase the financial liabilities of the family and not necessarily reduce the disease burden. A patient-centered approach with appropriately trained healthcare functionaries and support groups is necessary to maximize the benefit from AID systems.

Stankute et al. from Geneva, Switzerland, in another “Editorial commentary” observe that there is an assumption that improved glycemic metrics will naturally translate into better HRQoL.^[5] However, accumulating evidence from Europe suggests that this relationship is neither linear nor universal and is strongly shaped by age, gender, family dynamics, cultural context, and psychosocial burden. The gender differences observed align closely with European and global evidence documenting higher diabetes-related distress among females. As parental oversight decreases and autonomy expands, diabetes management shifts from shared responsibility to individual burden. HRQoL monitoring during transitional periods is therefore not a luxury but a safeguard against silent deterioration.

In another “Original article,” Singh et al. from Kanpur, India, describe the clinical and nutritional determinants of bone mineral content (BMC) in 44 preterm neonates.^[6] In multivariable analysis, birth length, duration of total parenteral nutrition, duration of ventilatory support, and delay in fortification of feeds independently predicted BMC. These findings underscore both the biological dependence of skeletal mineral accretion on growth and the modifiable impact of neonatal nutritional practices. Early enteral optimization and timely fortification may improve skeletal outcomes.

In an accompanying “Editorial commentary,” Uday, Bengaluru, India, and Crabtree, Birmingham, UK, observe that impaired skeletal mineralization and reduced bone mass accrual are typically encompassed within the spectrum of metabolic bone disease of prematurity, defined by low serum phosphate along with elevated alkaline phosphatase, sometimes with parathyroid hormone levels and skeletal radiographs to detect rickets.^[7] Differences in body size and growth trajectories are important methodological challenges when interpreting skeletal mineral measures in children. The ISCD Pediatric Official Positions emphasize that dual-energy x-ray absorptiometry (DXA) results in children should be interpreted in the context of body size and recommend adjustment of bone density measures for stature when growth impairment is present.

Mughal and Jacob, Dubai, United Arab Emirates, in another “Editorial commentary,” caution about the interpretations of these observations due to the inherent methodological constraints of DXA in very small infants and the software used.^[8] A major limitation is that DXA does not account for bone depth and hence may yield lower values, warranting caution in interpretation. Despite these limitations, DXA has substantially advanced our understanding of skeletal development in preterm infants.

This issue has three very interesting “Case reports.” Late-onset hypocalcemia may be asymptomatic in infants, but the consequences of unrecognized hypocalcemia are severe, including seizures and morbidity. Parker et al., Morgantown, United States of America, describe two siblings who developed hypocalcemic seizures early in life due to an undiagnosed maternal parathyroid adenoma leading to hyperparathyroidism, which subsequently required surgery.^[9] The case highlights the importance of a meticulous history during the antenatal period of the mother.

Khatana et al., Gurugram, India, describe a 16-year-old boy with severe abdominal pain, palpitation, and breathlessness, diagnosed with dilated cardiomyopathy and severe heart failure.^[10] Non-contrast-enhanced CT of the abdomen showed an adrenal pheochromocytoma. He underwent a successful open adrenalectomy, and with intensive postoperative care, his left ventricular function gradually improved. A year later, he remains symptom-free, with his catecholamine levels returning to normal and ejection fraction improving from 10% to 40%.

46,XX disorder of sex development is a rare condition most often caused by translocation of the SRY gene; however, SRY-negative cases have been associated with SOX3 gene duplication. In this case report, Hooks et al., Oklahoma City, United States of America, report two biological brothers with phenotypic male presentation who had a 46,XX karyotype, absence of SRY, and SOX3 duplication.^[11] Both presented with hypospadias and normal pubertal testosterone levels for age.

In the “Images/Spotters” category, Tesfaye et al., Mizan Aman, Ethiopia, describe immature white blood cells on peripheral blood morphology secondary to hypothyroidism in a 2-year-old male child with myxedema, mimicking acute leukemia.^[12]

Under the series, “Fellows Corner,” Qamar, Meerut, India, details how she pursued hope, happiness, and harmony in a career toward pediatric endocrinology.^[13] She notes that the inherently integrative nature of the discipline bridges multiple organ systems and regulatory pathways, making it one of the most intellectually stimulating fields in pediatric medicine. The short-term studentship project under the Indian Council for Medical Research helped in choosing the career path followed by the thesis work during the postgraduate course in pediatrics. It all blossomed into a career in pediatric endocrinology under excellent mentors at Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

In our regular feature, “Ped Endo Journal Scan” Priyadarshini, New Delhi, India and Joshi, Brisbane, Australia, discuss four recent fascinating publications.^[14] The first is a study on enhancing the accuracy of newborn screening for 21-hydroxylase deficiency by a strategic use of 21-deoxycortisol in a large-scale Japanese cohort in the context of high rates of false positivity with 17-hydroxyprogesterone assessment. The second study details the results of the “once-weekly navepegritide” in children with achondroplasia by the Approach Randomized Clinical Trial across seven countries. It circumvents the adverse effects of hypotension with equal efficacy as vosoritide. The third study analyzes the efficacy and safety of inclisiran, a small interfering RNA directed against PCSK9, in adolescents with heterozygous familial hypercholesterolemia (ORION-16) in a two-part, randomized, multicenter clinical trial across 26 countries in Europe. The fourth study noted that the body roundness index is a stronger predictor of cardiometabolic risk than body mass index in children between the ages of 8 and 17 years in the USA.

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 are grateful for your comments and suggestions and welcome contributions to the forthcoming issues of our journal.

Happy reading!