Background Hyperthyroidism occurs in about 1 per 5000 children and adolescents. Graves disease (GD) is the most common cause of hyperthyroidism in children and adolescents. The treatments that are currently available for children with GD include Carbimazole (CMZ), radioactive iodine (RAI) therapy and surgery. The paucity of GD data in children from the sub-Saharan African region, challenge the physician in identifying the best suited diagnostic and treatment strategies for the patient population in their setting. Objective The aim was to describe the population group attending the Paediatric and Adolescent Endocrinology Services (PAES) at Red Cross War Memorial Children's Hospital (RCCH) and Groote Schuur Hospital (GSH) in Cape Town, Western Cape. This study hoped to contribute information to the body of evidence concerning GD in the paediatric population of South Africa. Methods This was a retrospective folder review of all children and adolescents diagnosed with GD, attending the PAES in the previous two decades. Their demographic profile, clinical and laboratory findings and the treatment modalities utilised were described. All patients diagnosed with GD between the ages of 1 and 20 years old were included. Data were described as proportions and percentages. The measures of central tendency were described by median, and inter-quartile range (IQR). Results Thirty-one patients were included in the study. Twenty-six patients were female. The median age at presentation was 10.1 years (IQR: 8.9; 11.7). All patients were initially treated medically with Carbimazole (CMZ). Two patients experienced mild adverse reactions attributed to CMZ. Twelve (39%) patients went into remission after a single course of CMZ, after a median of 16.3 months(IQR: 8.6; 35.1). At the study's conclusion, nine (29%) patients were in remission, nine (29%) remained on CMZ therapy, ten (32%) underwent RAI and three (10%) relapsed before GD remission was achieved. One-quarter of the patients (n=8) were known with Down syndrome (DS). These patients presented at a significantly younger age than those without DS. Conclusion The children and adolescents diagnosed with GD managed in the PAES were similar in sex distribution, slightly younger in age and tolerated CMZ better than reported in literature. This study demonstrated the importance of considering prolonging CMZ therapy in patients not yet in remission and as a viable retreatment option in patients that relapse.

Includes abstract. / Includes bibliographical references (leaves 56-60). / To audit the crod blood thryoid screening programme in the Peninsula Maternal and Neonatal Services (PMNS) in the 5 year period from 01/01/2000 to 31/12/2004, focusing on coverage, recall rate and success, number of cases detected, incidence of congenital hypothryoidism in this population; and cost efficiency of the programme. All babies born in the PMNS from 01/01/2000 to 31/12/2004 were included in the audit. The medical records of all babies recalled following an abnormal screen were examined. 140 507 babies were born in the PMNS during the audit period, while 130 389 primary Thyroid Stimulating Hormone (TSH) screens were done (92.8% coverage). 2 207 of the screened babies had abnormal results requiring review.

Introduction: Diabetes management in very young children remains challenging. Glycaemic targets are achieved at the expense of high parental diabetes management burden and frequent hypoglycaemia, impacting quality of life for the whole family. Our objective is to assess whether automated insulin delivery can improve glycaemic control and alleviate the burden of diabetes management in this particular age group. Methods and analysis: The study adopts an open-label, multinational, multicentre, randomised, crossover design and aims to randomise 72 children aged 1-7 years with type 1 diabetes on insulin pump therapy. Following screening, participants will receive training on study insulin pump and study continuous glucose monitoring devices. Participants will be randomised to 16-week use of the hybrid closed-loop system (intervention period) or to 16-week use of sensor-augmented pump therapy (control period) with 1-4 weeks washout period before crossing over to the other arm. The order of the two study periods will be random. The primary endpoint is the between-group difference in time spent in the target glucose range from 3.9 to 10.0 mmol/L based on sensor glucose readings during the 16-week study periods. Analyses will be conducted on an intention-to-treat basis. Key secondary endpoints are between group differences in time spent above and below target glucose range, glycated haemoglobin and average sensor glucose. Participants' and caregivers' experiences will be evaluated using questionnaires and qualitative interviews, and sleep quality will be assessed. A health economic analysis will be performed. Ethics and dissemination: Ethics approval has been obtained from Cambridge East Research Ethics Committee (UK), Ethics Committees of the University of Innsbruck, the University of Vienna and the University of Graz (Austria), Ethics Committee of the Medical Faculty of the University of Leipzig (Germany) and Comité National d'Ethique de Recherche (Luxembourg). The results will be disseminated by peer-reviewed publications and conference presentations.

In den letzten fünf Jahren gelang es, drei neue genetische Krankheitsbilder aus dem Kreis der pädiatrischen Endokrinologie klinisch zu beschreiben und deren genetische Grundlage aufzuklären. Hierbei waren vor allem die klinischen Erscheinungsbilder ungewöhnlicher Patienten, die neben bekannten hormonellen Ausfällen durch assoziierte Defekte auffielen, für die gezielte Suche nach genetischen Defekten ausschlaggebend. In allen drei Fällen konnten die assoziierten Symptome durch den primären genetischen Defekt molekular geklärt werden. Mittlerweile ist bei weiteren Patienten ein Mutationsnachweis gelungen und der zuerst von uns beschriebene Phänotyp konnte jeweils bestätigt werden. Bei den beschriebenen defekten handelt es sich um den POMC Gendefekt (klinisches Bild: Adipositas, rote Haarfarbe und Hypocortisolismus), den LHX3 gendefekt (klinisches Bild: Hypopituitarismus und Enschränkung der Haslrotation) und den NKX2.1 Gendefekt (klinisches Bild: Angeborene Hypothyreose und Choreoathetose). / In the last few years'' three new genetic syndromes were described which affect diseases within the field of paediatric endocrinology. The clinical picture of uncommon patients, which are affected beside known endocrine defects by additional associated symptoms, led to the molecular differential diagnosis which resulted in the description of new mutations. In all three cases the additional symptoms could be explained by the identified genetic defect. Meanwhile additional patients were identified with mutations in the affected genes, which confirmed the initial description of the new clinical diseases. The identified syndromes are: POMC gene defect (clinical picture: obesity, red hair, hypocortisolism), LHX3 gene defect (clinical picture: hypopituitarism and decreased neck movement) and NKX2.1 gene defect (clinical picture: congenital hypothyroidism and choreoathetosis).