Explore the vast range of titles available.

Background Severe primary insulin-like growth factor-I (IGF-I) deficiency (SPIGFD) is a rare growth disorder characterized by short stature (standard deviation score [SDS] ≤ 3.0), low circulating concentrations of IGF-I (SDS ≤ 3.0), and normal or elevated concentrations of growth hormone (GH). Laron syndrome is the best characterized form of SPIGFD, caused by a defect in the GH receptor ( GHR ) gene. However, awareness of SPIGFD remains low, and individuals living with SPIGFD continue to face challenges associated with diagnosis, treatment and care. Objective To gather perspectives on the key challenges for individuals and families living with SPIGFD through a multi-stakeholder approach. By highlighting critical gaps in the awareness, diagnosis, and management of SPIGFD, this report aims to provide recommendations to improve care for people affected by SPIGFD globally. Methods An international group of clinical experts, researchers, and patient and caregiver representatives from the SPIGFD community participated in a virtual, half-day meeting to discuss key unmet needs and opportunities to improve the care of people living with SPIGFD. Results As a rare disorder, limited awareness and understanding of SPIGFD amongst healthcare professionals (HCPs) poses significant challenges in the diagnosis and treatment of those affected. Patients often face difficulties associated with receiving a formal diagnosis, delayed treatment initiation and limited access to appropriate therapy. This has a considerable impact on the physical health and quality of life for patients, highlighting a need for more education and clearer guidance for HCPs. Support from patient advocacy groups is valuable in helping patients and their families to find appropriate care. However, there remains a need to better understand the burden that SPIGFD has on individuals beyond height, including the impact on physical, emotional, and social wellbeing. Conclusions To address the challenges faced by individuals and families affected by SPIGFD, greater awareness of SPIGFD is needed within the healthcare community, and a consensus on best practice in the care of individuals affected by this condition. Continued efforts are also needed at a global level to challenge existing perceptions around SPIGFD, and identify solutions that promote equitable access to appropriate care. Medical writing support was industry-sponsored.

Background: The effectiveness of all prescribed treatments is contingent on patient adherence. The reported levels of adherence to recombinant human growth hormone (r-hGH) therapy are highly variable, but it has been suggested that nonadherence might be as high as 36% to 49%. Objectives: This commentary discusses the factors that affect long-term adherence to injection treatment, of which r-hGH therapy is a particular challenge. It also explores potential strategies to improve adherence to injection treatments in clinical practice. Methods: The opinion of the authors was validated and supported by published literature. A PubMed literature search was conducted in November 2006, identifying English-language articles containing key terms growth hormone, adherence, and compliance. Results: This study found that factors associated with poor adherence to injection treatments include patients' lack of understanding of their disease, patient age, chronicity of the disease, complex treatment regimens, and insufficient information on the implications of nonad-herence. Strengthening the patient-physician relationship by providing the patient with a clear understanding of his/her disease and the benefits of adherence, making improvements in injection devices, and eliminating subjective illness concepts, might increase adherence to SC injection treatments, thereby reducing increasing health care costs associated with nonadherence. Conclusions: Poor adherence to r-hGH therapy has a dual effect, in that it leads to reduced efficacy out-comes and increased health care costs. Implementing strategies to improve adherence with injection treatment might be of particular clinical benefit to patients undergoing r-hGH therapy.

Quality-of-life studies, although limited, suggest there is no evidence that children who undergo thyroidectomy regret it.4 We undertook a service evaluation at Great Ormond Street Hospital (GOSH) to review the remission rate and indications for definitive or prolonged medical treatment. Long-term medical management is not without risk, and the relationship between treatment duration and remission remains unclear. [...]we have a more refined assessment for predicting remission or effective immunological therapies to induce remission, we propose that young people with GD may benefit from earlier definitive treatment in high throughput surgical centres, avoiding the disruption of definitive treatment during critical education years at secondary school. A better understanding of the quality of life in children who undergo definitive treatment at various ages will help confirm if prolonging medical therapy may be just delaying the inevitable.

Background: To assess free patient choice for pediatric patients commencing growth hormone (GH) therapy within the UK and Republic of Ireland. Methods: A semistructured questionnaire was sent to all members of the British Society for Paediatric Endocrinology and Diabetes. Results: Of 55 units responding, three do not commence patients on GH. The remaining 52 units included 21 from (all) historic growth centres, 13 from other tertiary centres, and 18 from district general hospitals. 46/52 units (89%) offer free patient choice, involving: demonstration of devices (n = 15), instructional DVDs (6), a combination of both (20), or other (3). Median (range) time spent choosing the GH device was 60 (25–150) min. Device demonstration involved: dialling up doses (39 units), assembling/dissembling (38), GH reconstitution (33), considering facilities provided by manufacturer (25), injecting patient (19), injecting parent (17), showing additional material (11), and cost consideration (4). Median (range) number of steps shown per unit was 5 (1–8), with correlation between numbers of manufacturers/devices and new patients commenced on GH per unit (R = 0.62 and 0.61, both p < 0.01), but not with time spent showing devices (R = 0.12 and 0.22, p > 0.05). Conclusion: Most units now offer some form of patient choice for new patients commencing GH therapy, although this involves several different methods, with larger units offering more manufacturers and more devices.

Hepatic haemiangiomas in infancy are rare. An association with hypothyroidism has been previously reported and is believed to be secondary to the conversion of thyroxine (fT 4 ) to biologically inactive reverse triiodothyronine (rT 3 ) by type 3 iodothyronine deiodinase (D 3 ). We report a case that responded well to the combined use of liothyronine and thyroxine therapy.