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Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports. In this prospective observational study, we report seizure characteristics and EEG findings in combination with neurobehavioral and SLC6A8 pathogenic variants in twenty males with CTD. Eighteen study participants (SP) underwent video‐EEG, and seven had follow‐up EEG recordings. Seizures typically occurred by age of 2 years. Thirteen (65%) had non‐febrile seizures, requiring anti‐seizure medications in nine. Four had febrile seizures. Seizures were bilateral tonic–clonic in 7 SP and focal impaired awareness in 5 SP; often responding to 1 to 2 antiseizure medications. EEG showed slowing in 5 SP, beta activity in 6 SP, and focal/multifocal, and/or generalized epileptiform activity in 9 SP. Follow‐up EEGs in 7 SP showed emergence of epileptiform activity in 1 SP, and increased activity in 2 SP. In conclusion, seizures were frequent in our cohort but tended to respond to antiseizure medications. Longitudinal follow up provided further insight into emergence of seizures and EEG abnormalities soliciting future studies with long term follow up. Biomarkers of epileptogenicity in CTD are needed to predict seizures in this population. [ABSTRACT FROM AUTHOR]

Central precocious puberty is defined as puberty occurring prior to the age of 7.5-8 years in girls and 9 years in boys. The main goals of treatment include the arrest of pubertal progression and preservation of final adult height. In the USA, depot leuprolide has been the mainstay of treatment. It is a gonadotropin-releasing hormone agonist that is administered as an intramuscular injection every 4 weeks. Recently, a 1-year subcutaneous implant has been developed for continuous delivery of the gonadotropin-releasing hormone agonist histrelin. Initial prospective trials have demonstrated that it is efficacious, safe and well tolerated. It is an exciting alternative to painful monthly injections for the treatment of central precocious puberty., Author(s): Samar Rahhal [sup.[[dagger]]] [sup.1] , Erica Eugster [sup.2] Keywords: central precocious puberty; gonadotropin-releasing hormone agonists; histrelin; implant Central precocious puberty (CPP) results from early activation of the hypothalamic-pituitary-gonadal axis. [...]

The article discusses a study which aimed to investigate the incidence of thyroid stimulating immunoglobulin (TSI) negativity in children and adolescents diagnosed with Graves' disease (GD). The study also aims to determine whether any aspects of the disease were different in patients with TSI negative versus TSI positive GD. Charts of children with GD seen in a pediatric endocrinology clinic over the past five years were reviewed in this study. The study concluded that in patients with GD, the finding of a negative TSI titer usually creates diagnostic uncertainty.

The article discusses a study on the autonomy in diabetes care in pediatric continuous subcutaneous insulin infusion (CSII) users. The study involved autonomy questionnaires wherein parents of diabetic children on CSII for over a year indicated who is primarily responsible for the different diabetes care tasks such as blood sugar monitoring, calculation of insulin doses and administration of insulin boluses. It notes that parental involvement in such tasks improves glycemic control. [ABSTRACT FROM AUTHOR]

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme 7-dehydrocholesterol reductase. This results in elevated levels of cholesterol precursors and typically low cholesterol levels, leading to a range of physical and cognitive challenges. Mortality rates in infants with severe SLOS are high, due to congenital malformations. Premature death has been described in individuals with SLOS, particularly in severely affected individuals. Further research is needed to understand postnatal mortality risk factors for individuals with SLOS. Understanding these factors could improve monitoring and prevention efforts. To investigate this, we obtained death certificates from the National Death Index (NDI) database on a cohort of individuals with SLOS who were enrolled in natural history studies at the National Institutes of Health Clinical Center (NCT00001721 and NCT05047354). Analysis and comparison of this deceased cohort showed that although premature death occurs in SLOS, many individuals with SLOS survive into adulthood. We also observed the risk of postnatal mortality increasing with higher severity scores and lower initial cholesterol levels. Trial Registration: NCT00001721 and NCT05047354., (Published 2024. This article is a U.S. Government work and is in the public domain in the USA. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)