Editor’s Page

We welcome you all to an exciting issue of JPED, covering a selection of original articles, case reports, images, reviews, and journal updates. We do hope these articles are intellectually stimulating to the readers, especially the postgraduate students and fellows in training.

Sukanya Priyadarshini et al., from New Delhi, in an invited review on “Genetic diagnosis of XY Disorders of Sex Development (XY DSD)” in the series on “Genetics for the Pediatric Endocrinologists” discuss the different modalities of genetic testing and their utility and limitations. XY DSD represents a group of heterogeneous genetic entities that result in divergences between chromosomal, gonadal, and phenotypic sex due to a reduction in androgen synthesis or action. It includes gonadal dysgenesis, disorders with reduced androgen production (with or without glucocorticoid and/or mineralocorticoid synthesis), and insensitivity to androgen action. Standard diagnostic modalities such as karyotyping, biochemistry, radiology, and laparoscopy help to devise an action plan in some cases, but molecular genetic testing is the key to a clear-cut etiology and to predict the natural course in terms of pubertal development and potential for fertility. This helps in making more appropriate decisions on the gender of rearing and guiding on surveillance for extragenital features and the risk of recurrence in subsequent pregnancies.

A study published in this issue of the journal by Emily L Montgomery et al. from Louisville, United States, reports increased incidence rates of new-onset type 1 diabetes (T1D) (11%) and type 2 diabetes (T2D) (238%) in youth from the United States during the COVID-19 pandemic years (2020 and 2021) compared to those in the pre-pandemic years. They reiterate the observations from most of the previous studies. However, they did not observe a greater body mass index (BMI) of youth with T2D during the pandemic period despite the increased incidence rate. The peak incidence rate of T1D was in the summer seasons of both the pandemic years. The authors also noted a decline and stabilization of the incidence of T1D and T2D in youth in the subsequent year, 2022.

Ragnar Hanas, Uddevalla, Sweden, has reviewed the available global literature on a causal relationship between the COVID-19 pandemic and the development of new-onset diabetes mellitus. Many studies have found an increased incidence of T1D during the pandemic. A causal relationship, as shown with increased incidence of islet cell antibody, was shown in some studies, but recent studies from Germany and the USA on a large number of new-onset T1D failed to show such an association. The evidence for a causal relationship is less convincing. It is also not clear whether vaccination against COVID-19 will help to prevent the development of T1D.

Dhananjaya MS and Vijaya Sarathi from Bangalore, in an editorial commentary on the Indian perspective, also raise concerns about increased incidence rates of T1D and T2D compared to pre-pandemic years. The effect of the COVID-19 pandemic on incidence rates of T1D and T2D appears to be transient. The authors also look at the issue of increased BMI and an increase in forced sedentary lifestyle during this period. The increase in diabetic ketoacidosis was another observation, with no evident role for obesity. The authors also comment on the reported seasonal variations during the epidemic, with a peak in summer. We need more long-term studies on COVID-19 and diabetes to establish a cause-effect relationship.

Children and adolescents with T1D are more likely to suffer from mental health issues especially depression and anxiety than their peers. Brendon J Selby et al. from Crawley, Australia describe a study of screening adolescents with T1D who had not been accessing psychological services for depression and anxiety using validated screening tools. Mild to severe depressive symptoms were experienced by 29% and mild to severe anxiety symptoms by 18% of the subjects. This study highlights the importance of regular mental health screening using authorized tools to identify those who would benefit by psychological services.

This issue also has some unusual yet noteworthy case reports.

It is often difficult to identify newborns and infants who have pathologic hypoglycemia. It is important to formally evaluate such babies by drawing critical samples. Santhosh Olety Sathyanarayana et al. from Bengaluru present two cases of neonatal hypoglycemia that had almost similar clinical presentations, but the complete evaluation revealed a different etiological spectrum and, hence, lifelong management. Through these case studies, the authors discuss various aspects and practical challenges of hypoglycemia management, from biochemical, genetic, and radiological diagnosis, especially “critical sampling,” medical treatments such as growth hormone therapy in neonates, diazoxide unresponsiveness, surgical interventions, and optimal monitoring of glycemic range.

Esther Serisuelo Meneu et al. from Valencia, Spain, present a child with Allan Herndon Dudley syndrome characterized by a mutation on the X-linked monocarboxylate transporter 8 gene, a condition that affects the transport of thyroid-stimulating hormone (TSH) across the cell membrane, leading to hypothyroidism in the central nervous system and hyperthyroidism in peripheral tissues, causing severe neurodevelopmental delay manifesting as generalized hypotonia from birth. The utility of monitoring thyroid functions, genetic testing, and triiodothyroacetic acid in the management is highlighted.

Diabetic striatopathy is a complication of poorly controlled diabetes mellitus and is uncommon in children. It manifests as movement disorders, the most common being hemichorea and hemiballismus. Reetha Gopinath et al. from Kannur describe a girl with long-standing poorly controlled diabetes presenting as hemiballismus and the issues in diagnosis and management. Neuroimaging shows characteristic findings that aid in diagnosis.

Akanksha C Parikh et al., Mumbai describe the clinical course of an infant who developed hypopituitarism secondary to severe traumatic brain injury and outline some of the clinical and radiological red flags that can assist in predicting the development of pituitary dysfunction in such cases.

In the section on “Clinical images and spotters,” Vrind Bhardwaj from Jabalpur describes a case of long-standing untreated primary hypothyroidism and down syndrome in a child with uncommon co-morbidities, including hypothyroid myopathy and pseudo-precocious puberty.

In our regular feature on “Ped Endo Journal Scan,” Kriti Joshi, from Brisbane, Australia, discusses five recent fascinating publications. These include liraglutide for children 6–<12 years of age with obesity – a randomized trial, analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families; clinical efficacy of zoledronic acid on fracture reduction in youth with primary and secondary skeletal fragility, comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients and early dysglycemia are detectable using continuous glucose monitoring in very young children at risk of T1Ds. The editors are of the opinion that these research articles will add fresh insights for better and optimal management of children with chronic endocrine disorders.

We have strived hard to present to you a variety of interesting clinical situations requiring intelligent 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!