Our findings do not support the hypothesis that, in our unscreened population, males affected by SW CAH are dying prior to diagnosis.

IntroductionUK screening for congenital hypothyroidism (CH) is based on dried blood spot Thyroid Stimulating Hormone (TSH). Scintigraphy may identify CH subtypes classified as dysplasia, gland in situ (GIS) and ectopia, but is not performed in all centres. We retrospectively investigated the role of scintigraphy to identify CH subtypes in a single tertiary centre cohort.MethodsBabies who screened positive for CH between 2007 and 2017 were studied (n=418 of 534 783). Scintigraphy outcomes were correlated with TSH and levothyroxine dose. GIS patients were analysed for 3-year outcomes.Results303 patients started levothyroxine. Scintigraphy demonstrated three subtypes: GIS (n=139, 46%) ectopia (n=84, 28%) and dysplasia (n=80, 26%). Three-year follow up demonstrated permanence in 54% of 37 GIS cases.DiscussionThyroid scintigraphy differentiates subtypes of CH and suggests a higher than expected proportion of patients with GIS and ectopia. CH is permanent in half of those with GIS.

No abstract

correlated with LTFU BMI before comparing between the glucocorticoids. Results The mean BMI of both groups was overweight at first adult LTFU (PRED BMI=27.3; DEX BMI=25.5) and most recent LTFU (PRED BMI=28.0; DEX BMI=25.9). There was no difference in overall BMI at any point or period during LTFU between PRED and DEX groups. The DEX group experienced a significantly smaller increase in BMI from end of treatment to first adult LTFU (SD=3.4, p<0.05) and most recent LTFU (SD=4.4, p<0.05). The PRED group showed significantly greater correlation between WFA Z-score at six months from treatment and first adult LTFU BMI. The DEX group showed significantly greater correlation in the total change of WFA Z-score during treatment with first adult LTFU BMI. Conclusions Adult survivors of childhood ALL do not differ in LTFU BMI when treated with PRED or DEX. Those treated with the current standard glucocorticoid, DEX, experience smaller increases in BMI after treatment. Weight changes during treatment correlate differently with LTFU BMI depending on the type of GC. The results highlight potential warning signs during treatment which may enable early intervention to reduce the prevalence of high BMI in adulthood.

No abstract