These new international reference values for Tvol by ultrasound can be used for goiter screening in the context of IDD monitoring.

We report on the clinical and molecular findings in 25 males and three females with Kallmann syndrome (KS) aged 10-53 yr. Ten males were from five families, and the remaining 15 males and three females were apparently sporadic cases. Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases. In addition, submicroscopic deletions at Xp22.3 involving VCX-A, STS, KAL1, and OA1 were identified in three familial cases and one sporadic male case affected by a contiguous gene syndrome. Clinical assessment in the 15 males with KAL1 mutations showed normal and borderline olfactory function in two males and right-side dominant renal lesion in seven males, in addition to variable degrees of hypogonadotropic hypogonadism (HH) in all the 15 males and olfactory dysfunction in 13 males. The two males with FGFR1 mutations had HH and anosmia and lacked other features. Clinical features in the remaining 11 cases with no demonstrable KAL1 or FGFR1 mutations included right renal aplasia in one female, cleft palate in one male, cleft palate and perceptive deafness in one male, and dental agenesis and perceptive deafness in one male, in addition to a variable extent of HH and olfactory dysfunction. The results suggest the following: 1) KAL1 mutations might be more prevalent in the Japanese patients than previously estimated in the Caucasian patients and can be associated with apparently normal olfactory function; 2) FGFR1 mutations account for approximately 10% of KS patients, as previously reported in the Caucasian patients, and can result in HH and olfactory dysfunction-only phenotype; and 3) renal aplasia, which is characteristic of KAL1 mutations, and cleft palate and dental agenesis, which are characteristic of FGFR1 mutations, can occur in patients without KAL1 and FGFR1 mutations.

To clarify the clinical significance of elevation of serum aminotransferase levels in anorexia nervosa, we analyzed the relationships of serum aminotransferase levels to other serum biochemistry and physical conditions before and during refeeding therapy in 101 patients with anorexia nervosa. Before refeeding therapy, body mass index (BMI) was distributed from 9.9 to 16.4 kg/m2 (13.2 ± 1.3, mean ± SD), and 29 patients (28.7 % ) showed abnormally high aminotransferase levels. Among17 patients with a BMIof less than 12 kg/m2, the aminotransferase level was abnormally high in 13 patients (76 % ). Incidence and severity of serum aminotransferase elevation were greater in the patients with lower BMI. The groups with high serum aminotransferase levels had a lower body temperature, lower pulse rate, and higher incidence of other biochemical abnormalities than the group with normal serum aminotransferase levels. These findings indicate that aminotransferase elevation develops at a high incidence in anorectic patients with a critically life-threatening condition, and it is a sign of multiorgan failure requiring urgent calorie repletion. This type of aminotransferase elevation is to be distinguished from refeeding-induced aminotransferase elevation.

Iodine intake assessed by UIC in Japanese pregnant women is regarded as sufficient and not excessive according to World Health Organization criteria. Although the data are local, our results provide additional information on the reference range for UIC throughout gestation in iodine-sufficient areas.

Iodine deficiency disorders (IDDs) are serious global public health problems and approximately 2 billion people are at risk of IDD complications. Urine iodine and thyroid size by ultrasound in school-age children are important indicators for assessing IDD in a population. Interpretation of sonographically measured thyroid volume requires valid reference criteria from iodine-sufficient populations, and in 2003 WHO (World Health Organization)/ICCIDD (International Council for the Control of Iodine Deficiency Disorders) proposed new international reference values for thyroid volume in children aged 6-12 years. To establish a normative reference of thyroid volume and characterize the current status of iodine nutrition in Japanese schoolchildren in Tokyo, where iodine deficiency has never existed, a total of 654 subjects aged 6-12 years (317 girls and 337 boys) in three primary schools were enrolled in the study in 2002. Thyroid volume was determined by using the standardized method recommended by WHO/ICCIDD and the iodine concentration in spot urine samples and the anthropometric measurements were evaluated. Thyroid volume was positively correlated with the children's age, height, weight, or BSA. Regardless of gender the computed median and 97th percentile thyroid volumes based on age or BSA in Japanese children were generally lower than the corresponding values recently reported in iodine-sufficient areas, although these values were slightly higher (5-13%) than those in the 2003 WHO/ICCIDD international reference. The computed median value of urinary iodine concentration was 281.6 microg/L (303.7 microg/gCre) and extremely high values exceeding 1,000 microg/L were found in 16% of the subjects. The present study clearly indicated a high iodine intake in Japanese schoolchildren and also established reference values for thyroid volume that might be applicable to countries in the Far East as a population-specific local reference.

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Successful long-term surgical outcome may be predicted if early postoperative mean basal GH level is reduced to < 6 mU/l (< 3 micrograms/l) and IGF-I level becomes normal. This study also confirms that early diagnosis and treatment by an experienced endocrinologist and neurosurgeon can improve the operative results in patients with acromegaly.