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Objective: To evaluate the effectiveness of mass screening of newborns for congenital hypothyroidism of central origin (CH-C) by measurement of free thyroxine (FT4) and thyroid-stimulating hormone (TSH). Design: Questionnaire-based survey of CH-C patients born between 1999 and 2008 in Kanagawa prefecture, Japan. Methods: TSH and FT4 levels in dried blood spots on filter paper were measured using ELISA kits, and CH-C was diagnosed at FT4 levels below a cutoff of 0.7 ng/dl (9.0 pmol/l). Survey results were collated with the database created by the screening organizer Results: Twenty-four CH-C patients (18 males) were identified, 14 of whom had multiple pituitary hormone deficiencies (group M), eight had isolated CH-C (group I), and two had undetermined pituitary involvement (group U). In groups M, I, and U, the number of patients with FT4 levels below the cutoff value at screening was five (36%), seven (88%), and one (50%) respectively; other patients had been diagnosed clinically. Thus, 13 patients were true positives, while nine were false negatives, yielding screening sensitivity of 59.1% and positive predictive value of 11.5%. The calculated sensitivity was 81.8% at a higher cutoff value of 0.9 ng/dl (11.6 pmol/l). The overall incidence of CH-C was estimated at 1 in 30 833 live births, while that of CH of thyroidal origin (CH-T) is 1 in 3472 live births in Kanagawa prefecture (CH-T/CH-C, 8.9). Conclusions: Newborn screening with combined FT4 and TSH measurements can identify a significant number of CH-C patients before manifestation of clinical symptoms, but a more appropriate FT4 cutoff value should be considered. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To examine the responsiveness of quality of life (QoL) associated with changes in clinical indices relevant to GH deficiency (GHD) in Japanese hypopituitary adults. Design and methods: QoL was determined using the Short Form (SF)-36 in Japanese adults with adult-(AO; n = 27) or childhood- (CO; n = 37) onset GHD in a 24-week double-blind placebo-controlled study with a fixed GH dose, and a subsequent 48-week open-label extension study with GH doses individualized using serum IGF-I levels. RESULTS: Baseline QoL was significantly decreased from the Japanese national reference in both onset types, more so in AO patients. Throughout the study, AO patients showed a trend for an increase in physical functioning and general health (P = 0.0564 and 0.0999 respectively), whereas CO patients showed no changes in these domains. Fat mass changes negatively correlated with the changes in physical functioning and general health in AO patients (r = –0.42 and –0.64 respectively), but to a lesser degree in CO patients (r = –0.36 and –0.32 respectively). CO patients displayed significant decreases in social functioning (P = 0.0305) and mental health (P = 0.0442) and a decreasing trend in bodily pain (P = 0.0769), although no correlation between these decreases and any measured clinical index was observed, except between changes in bodily pain and IGF-I levels (r = –0.43). CONCLUSIONS: QoL impairment was evident in Japanese adults with GHD, particularly in AO patients. In AO patients, general health and physical functioning domains were responsive to fat mass changes during GH treatment; this association was not evident in CO patients. These relationships between QoL and body composition warrant verification. [ABSTRACT FROM AUTHOR]