The natural course of newborns with transient congenital hypothyroidism.

Objectives: The incidence of congenital hypothyroidism (CH) has increased worldwide over the last decades, mainly due to the lowering of screening thresholds, resulting in the increased identification of newborns with transient CH. Several studies have reported the prevalence and the predictive parameters of transient CH, but reports on the long-term outcome are rare. This study aimed to assess the long-term course of neonates with transient CH.

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

Context: Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary osteodystrophy. Unawareness of this rare disease leads to delays in diagnosis.

Objective: The aims of this study were to describe the clinical and molecular characteristics of patients with genetically confirmed GNAS mutations and to evaluate their long-term outcomes.

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism.

Background: An association between hearing impairment (HI) and congenital hypothyroidism (CH) has been reported previously. However, in general, studies were retrospective and had small sample sizes, and the results were variable and inconclusive. The aim of our study was to assess the prevalence of HI among patients with CH and to examine factors potentially predictive of HI including severity of CH, etiology of CH, and timing of treatment initiation.

Long-Term Follow-Up and Outcomes of Autoimmune Thyroiditis in Childhood.

Autoimmune thyroiditis (AIT) is the most common cause of acquired hypothyroidism in children. The natural outcome of AIT in childhood has been reported previously however follow-up duration is generally short and results variable. To characterize clinical and biochemical findings at presentation of AIT, evaluate long-term outcomes and assess which factors at presentation predict evolution over time.

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to Mutation.

POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the gene are characterized by growth hormone (GH), thyrotropin, and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, more than 25 mutations have been identified in .

Exercise training improves vascular function and secondary health measures in survivors of pediatric oncology related cerebral insult.

Adolescent and young adult (AYA) survivors of pediatric oncology related cerebral insult are vulnerable to numerous treatment-induced deficits that significantly enhance cardiovascular disease risk. Regular exercise improves endothelial function, fitness, body composition and musculoskeletal function which may reduce predisposition for cardiovascular disease. Here we assessed the feasibility and effectiveness of a 24-week exercise intervention on cardiovascular, physical and metabolic outcomes in this population.

Metabolic and Psychological Impact of a Pragmatic Exercise Intervention Program in Adolescent and Young Adult Survivors of Pediatric Cancer-Related Cerebral Insult.

Purpose: To assess metabolic function among adolescent and young adult (AYA) survivors of childhood cancer-related brain surgery or cranial irradiation (CRT) and to determine feasibility, safety, and metabolic as well as psychological impact of a 6-month exercise program in this cohort.

Methods: Twenty AYAs aged 15-23 years were recruited. All had completed cancer treatment by age 15.

Fitness, body composition and vascular health in adolescent and young adult survivors of paediatric brain cancer and cranial radiotherapy.

Background Survivors of paediatric brain cancer and/or cranial radiotherapy (CRT) are at an increased risk of developing serious comorbidities. Established risk factors for chronic disease include central obesity, endothelial abnormalities and diminished fitness. Objectives Here we characterised anthropometry, body composition, bone mineral density (BMD), heart rate (HR), blood pressure (BP), endothelial function, muscular strength and endurance and aerobic fitness in adolescent and young adult (AYA) survivors.

Early cessation and non-response are important and possibly related problems in growth hormone therapy: An OZGROW analysis.

Objective: To investigate growth hormone (GH) treatment and treatment cessation with respect to efficacy and efficiency. To identify factors that best classify or predict cessation type: completed treatment (CT), early cessation (EC), or non-response (NR).

Design: Observational study (1990-2013) of the Australian GH Program comparing CT, EC, and NR groups with respect to demographic, clinical, and response criteria.

Increased Body Mass Index during Therapy for Childhood Acute Lymphoblastic Leukemia: A Significant and Underestimated Complication.

Objective & Design. We undertook a retrospective review of children diagnosed with acute lymphoblastic leukemia (ALL) and treated with modern COG protocols (n = 80) to determine longitudinal changes in body mass index (BMI) and the prevalence of obesity compared with a healthy reference population. Results.

NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.

Context: Intronic DNA frequently encodes potential exonic sequences called pseudoexons. In recent years, mutations resulting in aberrant pseudoexon inclusion have been increasingly recognized to cause disease.

Objectives: To find the genetic cause of familial glucocorticoid deficiency (FGD) in two siblings.

Childhood craniopharyngioma: 20-year institutional experience in Western Australia.

Aim: A retrospective audit was undertaken to evaluate modes of presentation and treatment outcomes for craniopharyngioma in a single paediatric institution over a 20-year period.

Methods: A search of the neurosurgical and histopathological databases for patients under 21 years of age treated for craniopharyngioma between 1990 and 2010 was performed at our institution. The clinical records of eligible patients were reviewed and information regarding presentation, medical and surgical management and post-treatment outcome were extracted and collated.

Octreotide in children with hypoglycaemia due to sulfonylurea ingestion.

Sulfonylureas are commonly prescribed for type 2 diabetes mellitus; however, overdose or accidental ingestion may result in profound and prolonged hypoglycaemia with permanent neurological sequelae and death. We describe two cases of children with hypoglycaemia due to presumed accidental ingestion of sulfonylureas, where traditional methods of raising blood sugar levels were unsatisfactory. Two studies describe Octreotide for adults with hypoglycaemia, but there are no studies examining the use of Octreotide in children for this indication.