Cardiometabolic Risk Markers in Children With Obesity and Variants in Pathway-related Genes.

Context: Variants in melanocortin 4 receptor () pathway-related genes have been associated with obesity. The association of these variants with cardiometabolic parameters are not fully known.

Objective: We compared the severity of obesity and cardiometabolic risk markers in children with pathway-related clinically reported genetic variants relative to children without these variants.

Exogenous Insulin Antibody Syndrome in a Pediatric Patient: Successful Treatment with Mycophenolate Mofetil.

Introduction: Exogenous insulin antibody syndrome (EIAS) rarely occurs in type 1 diabetes and should be considered in those with blood glucose levels outside the target range requiring greater than 2 units/kg/day of insulin without obesity. We describe the novel treatment of this condition using mycophenolate mofetil monotherapy in a pediatric patient in the outpatient setting.

Case Presentation: A 17-year-old Caucasian male with type 1 diabetes experienced an abrupt increase in insulin requirements from 1.

Copeptin levels in hospitalized infants and children with suspected vasopressin-dependent disorders: a case series.

Objectives: There have been recent advances assessing copeptin levels in adults with suspected disorders of vasopressin release. Very limited data exits on copeptin levels in children and infants, especially in a critically-ill hospitalized population where hyper- and hypo-natremia are very common. Our objective is to describe the institutional experience assessing copeptin levels in hospitalized infants and children with hyper- or hypo-natremia.

Clinical Utility and Outcome Prediction of Early ZnT8-IgG Testing and Titer in Type 1 Diabetes.

Objective: Type 1 diabetes autoantibodies are directed against multiple antigens including: glutamic acid decarboxylase, protein tyrosine phosphatase-like islet antigen 2 (IA2), insulin (IAA), and Zinc transporter 8 protein (ZnT8). The aim of our study was to determine if the presence or titer of ZnT8 antibodies (Ab) was predictive for clinical presentation at diagnosis or for the subsequent disease course.

Methods: Between January, 2003 and May, 2019, 105 patients aged ≤21 years with a clinical diagnosis of type 1 diabetes mellitus had at least 1 autoantibody measured.

Comprehensive Diabetes Autoantibody Laboratory-Based Clinical Service Testing in 6044 Consecutive Patients: Analysis of Age and Sex Effects.

Background: In 2017, Mayo Clinic Laboratories commenced offering a comprehensive type 1 diabetes mellitus (T1DM) autoantibody (Ab) evaluation including 4 known Abs targeting glutamic acid decarboxylase (GAD65), protein tyrosine phosphatase-like islet antigen 2 (IA2), insulin (IAA), and zinc transporter 8 protein (ZnT8) antigens.

Methods: The objective of this study was to evaluate real-time data on the frequency and patterns of all 4 Abs stratified by age and sex from 6044 unique consecutive adult and pediatric patients undergoing evaluation for suspected diabetes.

Results: At least one Ab was found in 3370 (56%) of all samples: 67% of children (aged 0-17), 49% of young adults (aged 18-35), and 41% for both middle-aged (aged 36-55) and older (aged >55) adults (P ≤ 0.

Ethical considerations of maternal-fetal surgery.

The practice of maternal-fetal surgery (MFS) has expanded from lethal fetal conditions to conditions which are significantly disabling but not a lethal fetal abnormality. The inclusion of myelomeningocele within the scope of MFS in the 1990s sparked a renewed debate over the ethics of MFS. While demonstrating increasing efficacy and range of application, MFS continues to be ethically fraught due to the inherent tension between maternal and fetal interests.

Liver Transplantation and Development of Diabetes in an Adolescent Male With HNF1B Disease.

Mutations in the hepatocyte nuclear factor-1-beta () gene cause a variety of diseases in different organ systems. Mutations have been described as causing neonatal cholestasis, maturity-onset diabetes of the young (type 5), cortical renal cysts, urogenital abnormalities, liver dysfunction, and atrophy of the pancreas. We describe a male patient who presented with cholestatic liver disease in infancy which progressed by age 14 to end-stage liver disease due to HNF1B disease.

Establishment of a Pediatric Ovarian and Testicular Cryopreservation Program for Malignant and Non-Malignant Conditions: The Mayo Clinic Experience.

Study Objectives: To describe the structure of a pediatric fertility preservation (FP) program and to share safety and patient satisfaction data.

Design: The FP program operates under prospective research protocols approved by the Mayo Clinic Institutional Review Board (IRB).

Setting: The FP program is a multidisciplinary effort between pediatric gynecology, reproductive endocrinology, pediatric urology, pediatric surgery, and laboratory medicine.

Consult and procedure incidence outcomes following establishment of a fertility preservation program for children with cancer.

Purpose: Fertility is a quality of life outcome adversely affected by cancer therapy. Many childhood cancer patients, however, are not offered options to preserve their fertility. Providers acknowledge difficulty discussing impaired fertility to patients due to lack of knowledge of available options.

Use of Copeptin Levels to Predict the Resolution of Transient Postoperative SIADH.

Background: Copeptin levels reflect vasopressin activity and help classify osmoregulatory disorders. There is limited pediatric experience using copeptin to diagnose and manage diabetes insipidus, syndrome of inappropriate antidiuretic hormone secretion (SIADH), and bi- or tri-phasic postsurgical osmoregulatory disorders. In this report, we describe serial copeptin levels in an infant who developed transient SIADH after neurosurgery.

An intragenic duplication of leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

Trichorhinophalangeal syndrome type I (TRPSI) is a rare disorder that causes distinctive ectodermal, facial, and skeletal features affecting the hair (tricho-), nose (rhino-), and fingers and toes (phalangeal) and is inherited in an autosomal dominant pattern. TRPSI is caused by loss of function variants in , involved in the regulation of chondrocyte and perichondrium development. Pathogenic variants in include missense mutations and deletions with variable breakpoints, with only a single instance of an intragenic duplication reported to date.

Ethical considerations of maternal-fetal intervention in a twin pregnancy discordant for anomalies.

Background: Recent evidence suggests prenatal fetoscopic tracheal occlusion (FETO) may improve the survival and long-term morbidity of neonates with congenital diaphragmatic hernia, yet little guidance exists in the medical literature as to the ethical permissibility of performing a maternal-fetal surgical intervention in a twin pregnancy discordant for a structural abnormality.

Case: Here, we present a case of a twin pregnancy with an unaffected twin (Twin A) and a twin diagnosed with severe congenital diaphragmatic hernia (Twin B). A proposed fetoscopic tracheal occlusion (FETO) procedure may improve the likelihood of survival and postnatal outcome of Twin B; however, balloon placement may also initiate very preterm birth at 28 weeks of gestation.

Improved utilization of waist-to-height ratio in cardiometabolic risk counselling in children: Application of DMAIC strategy.

Rationale, Aims, And Objectives: Waist circumference (WC) and waist-to-height ratio (WHtR) are superior surrogate markers of central obesity than body mass index. However, WC is not measured routinely in paediatric clinics. The objective of this study was to implement measurement of WC during routine assessment of children in an ambulatory outpatient clinic setting and subsequent dissemination of cardiometabolic risk counselling in children with central obesity (defined as WHtR ≥0.

Diagnostic accuracy of the McGill thyroid nodule score in paediatric patients.

Introduction: Thyroid cancer is the most common paediatric endocrine cancer; accurate diagnosis and prompt management of paediatric thyroid nodules is critical. The McGill Thyroid Nodule Score (MTNS), based upon clinical, ultrasound (US) and cytology criteria, has recently been modified and studied in a pilot paediatric group with good results. We aim to describe the diagnostic accuracy of the paediatric modified MTNS (PMTNS) in a large paediatric cohort.

Ultrasonography and the American Thyroid Association Ultrasound-Based Risk Stratification Tool: Utility in Pediatric and Adolescent Thyroid Nodules.

Background: Pediatric thyroid nodules are more likely to be malignant compared to those in adults and may have different concerning ultrasound (US) features. Recent adult guidelines stratify malignancy risk by US features. Our aim is to (1) describe and confirm US features that predict pediatric malignancy, and (2) apply the Adult American Thyroid Association (ATA) Risk Stratification Guidelines to a large pediatric cohort.

Thyroid storm after choking.

Background: A thyroid storm (TS) is a rare, but life-threatening condition in hyperthyroid patients. Mortality in adult TS patients may be as high as 10%. Typically, a trigger precipitates the storm in hyperthyroid patients.

Mild subclinical hypothyroidism is associated with paediatric dyslipidaemia.

Background: There is a lack of consensus on the cardiometabolic consequences of mild subclinical hypothyroidism (SCH) among children. The objective of the current study was to compare lipid profiles in children with mild SCH with those of euthyroid children.

Study Design: Retrospective medical record review.