BackgroundWith the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses.MethodsThe design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research.ResultsThe design of the I-DSD and I-CAH Registries provides them with the ability to perform multiple studies and meet the standards for data elements, data sources and eligibility criteria. The registries follow the standards for data security, governance, ethical and legal issues, sustainability and communication of activities. The data have a high degree of validity, consistency and accuracy and the completeness is maximal for specific conditions such as androgen insensitivity syndrome and congenital adrenal hyperplasia. In terms of research output, the external validity is strong but the wide variety of cases needs further review. The internal validity of data was condition specific and highest for conditions such as congenital adrenal hyperplasia. The shift of the registry from a European registry to an international registry and the creation of a discrete but linked CAH registry increased the number of users and stakeholders as well as the international acceptability of both registries.ConclusionsThe I-DSD and I-CAH registries comply with the standards set by expert organisations. Recent modifications in their operation have allowed the registries to increase their user acceptability.

BackgroundThyrotoxicosis is both rarer and more severe in children than in adults, rendering management difficult and often unsatisfactory.ObjectiveTo ascertain outcome in a geographically defined area of Scotland between 1989 and 2014.MethodRetrospective case note review with follow-up questionnaire to family doctors for patients with Graves’ disease and Hashimoto’s thyroiditis.ResultsSixty-six patients (58 females:8 males) comprising 53 with Graves’ disease and 13 with Hashimoto’s thyroiditis were diagnosed at median 10.4 (2.9–15.8) years and followed up for 11.8 (2.6–30.2) years. Antithyroid drug (ATD) therapy was stopped electively in 35 patients after 4.5 (1.5–8.6) years, resulting in remission in 10/13 Hashimoto’s thyroiditis and 10/22 Graves’ disease. Side effects occurred in 12 patients receiving carbimazole, six of whom changed to propylthiouracil; no adverse events occurred in the latter patients.Second-line therapy was given to 37 patients (34 with Graves’ disease), comprising radioiodine (22) at 15.6 (9.3–24.4) years for relapse (6), poor control/adherence (14) or electively (2); and surgery (16) at 12 (6.4–21.3) years for relapse (4), poor control/adherence (5) and electively (7). Adherence problems with thyroxine replacement were reported in 10/33 patients in adulthood.Conclusions Hashimoto’s thyroiditis should be distinguished from Graves’ disease at diagnosis since the prognosis for remission is better. Remission rates for Graves’ disease are low (10/53 patients), time to remission variable and adherence with both ATD and thyroxine replacement often problematic. We recommend (a) the giving of long-term ATD rather than a fixed course of treatment in GD and (b) meticulous and realistic counselling of families from the time of diagnosis onwards.

Objective:Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition.Methods:Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire.Results:Ninety patients (54 male-36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500 g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%). Reduced fetal movements (FM) were reported in 82.5% patients compared with 4% healthy siblings. Of 35 children born since 1999, 23 were diagnosed clinically within 28 days while diagnosis in 12 was >28 days: 1-12 months in seven; and 3.75-10.5 years in five. Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%). Causes other than PWS including neuromuscular disease were considered in nine patients. Conclusion:Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosis continues in some cases. Awareness of the typical features of PWS in newborn units is required to allow prompt detection even in the presence of confounding factors such as prematurity.