Hormone research in paediatrics
Audio Summaries

A Century of Growth Hormone from Pierre Marie (1886) to Creutzfeldt-Jakob Disease (1985)

Sep 22, 2026

This paper explores the historical development of growth hormone (GH) research from 1886 to 1985, particularly focusing on the recognition of acromegaly and the advancements in understanding pituitary function and hormone replacement therapy. The authors examine the concept of species specificity in GH and the active core hypothesis, which suggested that animal GH could be effective in humans, although this was ultimately rendered unnecessary with the advent of recombinant human GH. The study highlights the evolution of GH therapy and its implications for treating growth disorders.

Demand Breastfeeding in Infants using Diazoxide to manage Congenital Hyperinsulinism

Sep 12, 2026

The authors aimed to evaluate the safety and efficacy of demand breastfeeding in infants with Congenital Hyperinsulinism (CHI) undergoing diazoxide therapy, as breastfeeding is often discouraged due to concerns about fluid overload. Their retrospective study of 17 infants found that breastfeeding did not compromise glycaemic stability or increase the risk of fluid overload, suggesting that breastfeeding can be safely continued in this population with appropriate monitoring. The findings advocate for the support of breastfeeding in infants with CHI, countering the common practice of its cessation upon diagnosis.

Scheduled remote review of continuous glucose monitoring data with targeted intervention vs standard care in children with Type 1 Diabetes: A parallel-groups study

Sep 12, 2026

This study aimed to assess the effectiveness of scheduled remote reviews of continuous glucose monitoring (CGM) data with targeted interventions compared to standard care in improving glycaemic control and person-reported outcomes in children with type 1 diabetes. Although the intervention identified many participants needing support and provided targeted advice, it did not result in significant improvements in time in range or satisfaction outcomes over six months. The authors suggest that this model may be more beneficial for children with lower baseline time in range and recommend further trials in higher-risk populations.

Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay

Sep 12, 2026

The authors aimed to investigate the functional impact of homozygous variants in the ZSWIM6 gene, which they identified in two siblings exhibiting severe syndromic short stature, developmental delay, and specific facial features. Their study revealed that these variants affect transcriptional regulation differently, contributing to the clinical heterogeneity of ZSWIM6-related disorders. This research highlights ZSWIM6 as a crucial transcriptional regulator and provides insights into the genotype-phenotype correlations associated with its mutations.

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients

Sep 11, 2026

This study aims to refine the understanding of the phenotypic continuum of hypochondroplasia (HCH) by evaluating genetic, endocrine, and radiological findings in 23 patients with confirmed FGFR3 variants. The authors identify common clinical features, such as disproportionate short stature and specific radiographic abnormalities, while highlighting the genetic heterogeneity associated with different FGFR3 mutations. The findings emphasize the importance of molecular diagnosis for accurate identification and better understanding of genotype-phenotype correlations in HCH.

Diagnostic Value of Thyroid Ultrasound in Disseminated Fungal Infection. Case Report

Sep 11, 2026

This case report explores the diagnostic value of thyroid ultrasound and fine-needle aspiration (FNA) in identifying fungal infections, specifically in a pediatric patient with a history of cancer. The authors highlight the importance of considering infectious etiologies, such as Candida albicans, in the differential diagnosis of thyroid nodules that may appear suspicious for malignancy, particularly in immunocompromised individuals. The findings emphasize the need for a comprehensive approach combining cytology, culture, and molecular techniques for accurate diagnosis and management.

Patterns, Perceptions, and Gaps in Estrogen Replacement Therapies Among Adolescents and Adults with Turner Syndrome: Insights from the UTHealth Houston/Turner Syndrome Society of the United States Research Registry

Sep 10, 2026

This study aimed to investigate the patterns, perceptions, and challenges associated with estrogen replacement therapy among individuals with Turner syndrome (TS). The findings revealed that while a majority of participants had used estrogen, significant barriers to adherence persisted, including misconceptions about the therapy's necessity, side effects, and limited awareness of its benefits. The authors emphasize the need for improved patient education and individualized counseling to enhance long-term adherence and health outcomes for those with TS.

Limited Diagnostic Utility of Cortisol and Growth Hormone Levels Obtained During Hypoglycemia in Children

Sep 7, 2026

The authors aimed to evaluate the cortisol and growth hormone (GH) responses during spontaneous hypoglycemia in children and to determine the prevalence of adrenal insufficiency (AI). They found that while blunted cortisol responses were common, AI was rare, occurring in only 3.7% of cases. Additionally, suboptimal GH responses were prevalent, suggesting the need for further assessment based on clinical judgment.

INTRATHYROIDAL ECTOPIC THYMUS: THE TRICK OF THE TRADE

Sep 5, 2026

The authors aim to characterize intrathyroidal ectopic thymus (IET) in pediatric patients, particularly its clinical, biochemical, and sonographic features, to improve diagnostic accuracy and clinical management. Through a retrospective review of cases, they found that IET often mimics malignant thyroid nodules but can be identified by specific imaging characteristics, which may help prevent unnecessary interventions. Their findings suggest that IET should be considered in the differential diagnosis of thyroid nodules in children, especially those under five years old.

Efficacy and Safety of Luseogliflozin (TS-071) in Japanese Children and Adolescents with Type 2 Diabetes Mellitus: A Multicenter, Randomized, Double-masked, Placebo-controlled Phase 3 Study

Sep 5, 2026

This study aimed to evaluate the efficacy and safety of luseogliflozin, an SGLT2 inhibitor, in Japanese children and adolescents with type 2 diabetes mellitus. The results demonstrated a significant reduction in hemoglobin A1c levels in the luseogliflozin group compared to placebo, with sustained efficacy over 52 weeks and a favorable safety profile, indicating its potential as an effective treatment option for this population.