Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.

Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain is the major organ involved in MSUD.

Are sodium-glucose cotransporter-2 inhibitors safe adjunctive drugs during insulin therapy in young children with type 1 diabetes? The first case of type 1 diabetes with SLC5A2 mutation.

Highlights A persistent glycosuria alongside hypoglycemia in pediatric type 1 diabetes mellitus needs further evaluation. Morning hypoglycemia is a limiting side effect of sodium glucose transporter 2 (SGLT2) inhibitors in children younger than 5 years old. SLC5A2 mutation functioning as a SGLT2 inhibitor can result in acceptable range of glycated hemoglobin in younger children and lower required doses of insulin.

Increased incidence of the type 1 diabetes and diabetic ketoacidosis severity in children during COVID-19 pandemic.

Aim: The effect of COVID-19 on the occurrence of type 1 diabetes and ketoacidosis in children and adolescent.

Methods: In this descriptive-analytical cross-sectional study, the records of all children and adolescents hospitalized due to type1 diabetes for two years ago and during the COVID-19 pandemic and its peaks were investigated (January 2018-2022). Also, the desired variables including the frequency of hospitalized patients (known and new cases), the frequency of DKA, the severity of DKA, the duration of discharge from DKA, age, body mass index, duration of hospitalization, clinical symptoms including cerebral edema, laboratory data and the total daily dose insulin required at the time of discharge were compared and statistically analyzed.

Exaggerated Mini Puberty during Early Infancy of a Preterm Girl: A Case Report and Review of Literature.

Mini puberty is the important period of infancy life that can have a serious impact on sexual development in both sexes. In the infants born very preterm and with extremely low birth weight, mini puberty changes including changes in clinical, hormonal, and imaging data are severe and long lasting, especially in girls. It can be called "exaggerated mini puberty".

Wolcott-Rallison Syndrome With Different Clinical Presentations and Genetic Patterns in 2 Infants.

Wolcott-Rallison syndrome is a rare disease presenting with insulin-dependent diabetes mellitus (DM) before 6 months old, skeletal dysplasia after 6 months old, and liver failure. Other manifestations are renal failure, microcephaly, epilepsy, central hypothyroidism, neutropenia, and dental and dermal problems. The cases were 2 patients from 2 different states of Iran (Khoozestan and Fars) who had developed DM before 6 months old.