This study compared the age at onset of puberty among boys with short stature (prepubertal height SD score (SDS) ≤ –2.0 SD) who were small-for-gestational age (SGA) and those who were appropriate-for-gestational age (AGA), as well as healthy boys from the Ogi Growth Study. The study population consisted of boys who presented with short stature between 2008 and 2023. The study included 238 boys, including 229 whose age at puberty onset was auxologically determined and nine whose physical evaluations were performed at the onset of puberty. Of them, 40 were included in the SGA group and 198 in the AGA group. The control group consisted of 227 healthy boys from the Ogi Growth Study whose puberty was auxologically determined. Prepubertal height SDS was not significantly different between the SGA and AGA groups. Age at puberty onset was significantly earlier in the SGA group (10.87 ± 0.98 yr) than in the AGA group (11.90 ± 1.06 yr). Moreover, age at puberty onset was significantly earlier in the SGA group and significantly later in the AGA group than in the control group (11.28 ± 0.95 yr). Therefore, when following children with short stature, clinicians should consider the likelihood of early puberty if they are SGA.

Graves’ disease (GD) is the most common cause of pediatric thyrotoxicosis; however, differentiating it from other conditions is challenging. A high free triiodothyronine-to-free thyroxine ratio (FT3/FT4) ratio has been established as an indicator of GD in adults. In this retrospective observational study, we aimed to investigate the utility of the FT3/FT4 ratio as a screening marker for pediatric GD by analyzing the medical records of 105 patients aged 1–18 years who presented with thyrotoxicosis at three hospitals in Japan. The participants were divided into a GD group (TSH receptor antibody >2.0 IU/L and requiring antithyroid drug for at least six months; n = 70) and a non-GD group (n = 35). The median (range) of the FT3/FT4 ratio was significantly higher in the GD group than in the non-GD group (3.41 [1.90–5.22] vs. 2.92 [1.50–4.40]; p < 0.05). Receiver operating characteristic curve analysis of the FT3/FT4 ratio revealed an area under the curve of 0.693 (95% confidence interval [CI], 0.577–0.808). At the optimal cutoff value of 2.88, the FT3/FT4 ratio demonstrated a sensitivity of 0.86 (95% CI: 0.80–0.91) and a specificity of 0.51 (95% CI: 0.39–0.62) for GD screening. These findings suggest the usefulness of the FT3/FT4 ratio as a screening marker for pediatric GD.

Adipocytokines are proteins with systemic metabolic effects, and additional adipocytokines have been identified. Adipocytokines are present in the serum, and obesity-mediated inflammation can alter their expression. Breast milk also contains adipocytokines that may influence infant metabolism and growth. Nonetheless, the relationship between circulating and milk adipocytokines during maternal inflammation and their effects on infant development remain unclear. We conducted a comprehensive literature review of studies published between 2000 and 2024 in PubMed to analyze the associations between obesity-mediated inflammation and adipocytokines in maternal serum and breast milk and to explore their potential effects on infant growth and metabolic health. We focused on updated evidence for the legacy adipocytokines leptin, adiponectin, TNF-α, and IL-6 and the emerging adipocytokines chemerin, neuregulin-4, and betatrophin. The results indicated that although obesity-mediated inflammation affected circulating adipocytokines, their levels were not consistently reflected in breast milk. Leptin, chemerin, and betatrophin were more influenced by lipoinflammation than adiponectin, IL-6, and TNF-α. Neuregulin-4 was present in milk, and its serum levels decreased during gestational diabetes. Some adipocytokines were correlated with infant growth; however, the evidence remains inconclusive. Importantly, no adverse metabolic or growth outcomes were linked to changes in milk adipocytokine profiles. These findings support the promotion of breastfeeding as part of infant health strategies, even in the context of maternal lipoinflammation.

Fulminant type 1 diabetes mellitus (FT1DM) is a subtype of type 1 diabetes (T1DM) with an acute onset. There are limited reports on FT1DM in pediatric patients. Here, we report the case of a Japanese female infant with FT1DM, representing the youngest female with FT1DM documented to date. The patient was referred to our hospital at 10 mo of age. Although her laboratory findings met the diagnostic criteria for severe diabetic ketoacidosis, her HbA1c level was not excessively high. Anti-glutamic acid decarboxylase and anti-insulinoma-associated protein-2 antibodies were not detected. Test results for insulin autoantibodies were positive. The glucagon stimulation-loading test revealed a C-peptide level of < 0.6 ng/mL. At 8 yr of age, the patient was diagnosed with Graves’ disease. Human leukocyte antigen typing and analysis of a single-nucleotide polymorphism (rs3782151) in CSAD/lnc-ITGB7-1 revealed that the patient was predisposed to FT1DM owing to these two factors. Her findings at the disease onset fulfilled the diagnostic criteria for FT1DM. Although rare in FT1DM, the patient developed Graves’ disease, a complication commonly associated with autoimmune T1DM. Moreover, although her condition at onset and genetic predisposition were consistent with those of FT1DM, her clinical course resembled that of autoimmune T1DM.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder attributed to mutations in the MEN1 gene and is characterized by multiple endocrine tumors, including insulinoma. Asymptomatic hyperinsulinemic hypoglycemia and pancreatic nodules were incidentally detected in a 14-yr-old male carrying a pathogenic MEN1 variant. Although insulinoma was suspected, it did not meet Whipple’s triad, the classic diagnostic criteria for insulinoma, and some hypoglycemic provocation tests were negative. Selective arterial secretagogue injection (SASI) testing strongly suggested the presence of an insulinoma, and the lesions were surgically excised. The pathological findings were consistent with the SASI test results. Diagnosis of insulinoma based on conventional tests is challenging in some patients with asymptomatic insulinoma, and SASI testing can be useful not only for localization but also for insulinoma diagnosis.