Steffensenmay5095

653C>T in STAR were identified by targeted gene-panel sequencing. Skin hyperpigmentation should be considered an important clue for diagnosing NCCLAH.PURPOSE Insulin gene (INS) mutations are a rare cause of permanent neonatal diabetes and mature-onset diabetes of the young (MODY10). Homozygous mutations have been reported to cause diabetes by decreasing insulin biosynthesis through distinct mechanisms. In this study, we report a homozygous mutation c.-331C>G in the INS gene causing autosomal recessive neonatal diabetes in Saudi families and share our experience with diagnosis and management. METHODS We retrospectively reviewed all cases diagnosed with diabetes during the first week of life. We identified 18 cases, and all underwent genetic testing to identify the cause. Selleckchem SD49-7 Most had mutations in common genes (9 in KCNJ11 and 5 in ABCC8). The inclusion criterion for this study was a mutation in the INS gene. RESULTS Four patients from 3 Saudi families had mutations in the INS gene. All patients were born with low birth weight and were diagnosed with neonatal diabetes at the age of 2 days. Sanger sequencing analysis identified a homozygous INS pathogenic promoter variant, c.-331C>G. All patients were managed by insulin therapy. Two patients had persistent diabetes and in 2 cases diabetes resolved. CONCLUSION This report indicates that a homozygous mutation in the INS gene is a probable and important cause of neonatal diabetes in Saudi Arabia. The c.-331C>G variant in the INS gene identified in our study showed variability both within and between families and different outcomes ranging from early resolution of diabetes after 2 months of life to permanent diabetes.PURPOSE This study aimed to compare the proinsulin to C-peptide (PIC) ratio in those with recent-onset type 1 diabetes versus those with no diabetes and to explore the effect of age on PIC ratio. METHODS Nineteen participants (n=9 with type 1 diabetes and n=10 with no diabetes) between 10 and 19 years of age were enrolled in a single-visit cross-sectional study and underwent blood collection after 10 hours fasting to measure proinsulin and C-peptide levels as well as other glycemic parameters. RESULTS The median PIC ratio was significantly different between type 1 diabetes and nondiabetes groups (6.24% vs. 1.46%, P less then 0.01). A significant negative correlation was seen between PIC ratio and patient age after adjustment for duration of diabetes (r2=0.61, P=0.02) in the type 1 diabetes group. CONCLUSION Even in this narrow age window, a higher degree of β-cell dysfunction indicated by a higher PIC ratio was seen in younger children.PURPOSE This study evaluated the -202 A/C insulin-like growth factor binding protein 3 (IGFBP-3) promoter polymorphism as a predictor of serum IGFBP-3 concentration and growth velocity after recombinant growth hormone (rhGH) therapy in patients with idiopathic short stature (ISS). METHODS Genotyping and serial measurement of clinical parameters were performed in 69 children with a confirmed diagnosis of ISS. Restriction fragment length polymorphism analysis was performed to determine the genotype at the -202 IGFBP-3 locus. Serum insulin-like growth factor 1 (IGF-1) and IGFBP-3 levels were measured at baseline and after 1 year of rhGH treatment, as were height standard deviation score and growth velocity. RESULTS The -202 A/C IGFBP-3 genotype comprised 69.6% AA, 24.6% AC, and 5.8% CC. One year of treatment did not produce a meaningful difference in IGF-1 or IGFBP-3 levels between children in the AA group and those with at least one copy of the C allele (AC/CC group). Comparing the 2 groups after one year also revealed no significant difference in growth velocity (ΔHeight 9.061±1.612 cm/yr in the AA group, 9.421±1.864 in the AC/CC group, P=0.419). CONCLUSION rhGH treatment was effective and there were no significant differences in IGF-1, IGFBP-3, or growth velocity according to genotype. Thus, -202 IGFBP-3 genotype may not be a major factor affecting individual growth responses in Korean children with ISS.PURPOSE The clinical significance of birth weight relative to gestational age in girls with central precocious puberty is unclear. This study sought to compare clinical parameters such as final adult height (FAH) and menarche onset after treatment with gonadotropin-releasing hormone agonist (GnRHa) on birth weight in girls with central precocious puberty treated. METHODS This retrospective study reviewed data of 69 girls with precocious puberty who had reached their FAH in a long-term trial of GnRHa treatment between January 2007 and December 2017. The subjects were divided into small for gestational age (SGA) (n=19) and appropriate for gestational age (AGA) (n=50) groups. RESULTS When starting GnRHa treatment, bone age was 10.9±0.9 and 10.3±0.8 years in the SGA and AGA groups, respectively (P less then 0.05). The predicted adult height (PAH) (established according to the Bayley-Pinneau average table) and advanced PAH (established according to the Bayley-Pinneau advanced table) were 151.5±4.8 cm and 155.8±4.9 cm in the SGA group, respectively, and 153.4±5.3 cm and 159.0±6.0 cm in the AGA group. After treatment, no significant difference in bone age was found between the groups. The time to menarche after treatment was 12.5±7.6 and 21.1±12.3 months in the SGA and AGA groups, respectively (P less then 0.05). FAH in the SGA and AGA groups was 161.0±4.7 cm and 161.6±5.0 cm, respectively, without a significant difference. CONCLUSION SGA girls with precocious puberty have increased bone age and earlier menarche relative to AGA girls. However, no difference in FAH after treatment was found between these groups.Patients with neurological disorders are at high risk of developing osteoporosis, as they possess multiple risk factors leading to low bone mineral density. Such factors include inactivity, decreased exposure to sunlight, poor nutrition, and the use of medication or treatment that can cause lower bone mineral density such as antiepileptic drugs, ketogenic diet, and glucocorticoids. In this article, mechanisms involved in altered bone health in children with neurological disorders and management for patients with epilepsy, cerebral palsy, and Duchenne muscular dystrophy regarding bone health are reviewed.