Accurate and reliable determination of blood growth hormone level is essential in the diagnosis and treatment of short stature children. However, measured levels differed considerably among measurement kits available in Japan until 2003. Therefore, standardization of the measured values was attempted by measuring growth hormone levels in a sample of healthy adult individuals every year using the different kits. A standardization equation was developed for each kit through linear structural relationship with the mean values of the used kits and measured values in each kit as random variables. A Pearson's correlation coefficient between the mean values of all kits and the measured values from each kit was also obtained. Sources for the marked discrepancies amongst the measured values in the different kits were also explored. The obtained values for slopes and intercepts in the equations varied considerably, but the standard values obtained from these equations after the measured values for each kit were transformed into standard values served well as the standard. The standard solutions in the respective measurement kits were found to be the source of variability in the measured values among the kits.

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We report the cases of two Japanese children with cystic pituitary enlargement on magnetic resonance imaging (MRI) causing central diabetes insipidus (DI). In the first patient, endocrinological examination demonstrated slightly impaired growth hormone and thyroid stimulating hormone secretions, but normal responses of other anterior pituitary hormones. The second patient had normal basal levels of anterior pituitary hormones. Transsphenoidal resection of the tumors was performed in both patients. Histological analysis of the tumor sections demonstrated granulomatous tissue with cholesterol clefts, foamy macrophages, multinucleated giant cells and no epithelial component. Thus, these tumors were pathologically diagnosed as xanthogranuloma of the sellar region, different from adamantinomatous craniopharyngioma. Post-operatively, the two patients continue to have DI, however other hormone replacement therapy after one year of follow-up has not been required. Currently, it is not clear whether xanthogranuloma is a distinct entity from adamantinomatous craniopharyingioma. Although, to our knowledge, a clinical report of xanthogranuloma of the sellar region has not been reported at pediatric age, it would be included in the differential diagnosis of the sellar region.

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A patient with congenital hypopituitarism associated with cholestasis is reported here. Large doses of fat-soluble hormones (hydrocortisone (20 mg/m²/day) and L-thyroxine (14 μg/kg/day)) were needed to resolve hypoglycemia and hypothyroidism during cholestasis. The doses could be reduced to 10 mg/m²/day and 3.5 μg/kg/day, respectively, after improvement of cholestasis. Sodium valproate, which is a water-soluble drug, did not need any dose adjustments during cholestasis. Adjustment of fat-soluble hormone doses during cholestasis should be considered in patients with cholestasis.

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We report the case of a 7-yr-old girl with Turner syndrome, ulcerative colitis (UC) and coarctation of the aorta. The diagnosis of Turner syndrome was made in early infancy (karyotype analysis 45, X). Growth hormone treatment was started at 3 yr and 2 mo of age. From the age of 4 yr and 5 mo, the patient suffered from persistent diarrhea with traces of blood and intermittent abdominal discomfort. As these symptoms gradually deteriorated, she was referred to our clinic at the age of 7 yr for further evaluation. Barium enema showed aphtha and loss of the fine network pattern in the descending colon and rectum. An endoscopic examination showed ulceration, edema, friability, and erythema beginning in the rectum and extending up to the splenic flexure of the descending colon. The histology of the descending colon area showed severe stromal infiltration of inflammatory cells. These endoscopic findings and the histological findings were consistent with UC. Thus, based on these findings, the patient was diagnosed as having UC. Mesalazine therapy was initiated at this time. The patient is currently being treated with mesalazine (1,000 mg/day) and abdominal symptoms and bloody diarrhea have disappeared. GH therapy was not interrupted during the therapy for UC. Retrospectively, growth hormone improved growth velocity (9 cm/year) during the first year of treatment, however from the age of 4 yr, growth velocity decreased (4-5 cm/yr) in spite of the GH treatment. Conclusion: Patients with Turner syndrome and gastrointestinal symptoms should be investigated for inflammatory bowel diseases. Growth velocity is useful for evaluating the presence of inflammatory bowel diseases and other systemic diseases.

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Bisphosphonate is widely used to treat patients with primary and secondary osteoporosis. The chronic administration of furosemide is considered a risk factor for osteoporosis mainly due to the increased urinary excretion of calcium, leading to a long-term negative balance of calcium. We describe two patients with mild heart failure who took furosemide for more than 5 yr and developed hyperparathyroidism and lumbago associated with low bone mineral density. Their serum levels of intact parathyroid hormone and bone mineral density (BMD) of the lumbar spine (L2-L4) were 180.8 and 144.3 pg/ml, and 71% and 80% of the mean of healthy women, respectively. The oral administration of alendronate or risedronate was effective for lumbago and improved BMD, although the urinary excretion of calcium and hyperparathyroidism were not changed. For the medical treatment of lumbago and decreased bone mass secondary to the long-term administration of furosemide, bisphosphonate is proposed when the dose of furosemide cannot be reduced. However, it may be important to give sufficient calcium and vitamin D to patients to improve secondary hyperparathyroidism.

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Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. Karyotype analysis is one of the essential components in the diagnosis of MGD and is conventionally done with peripheral lymphocytes by the G-banding technique. It is speculated that this conventional karyotype analysis has limitations since there are often difference in gonadal tissue analysis. Here we present four cases of MGD, in which karyotype analysis were performed by peripheral lymphocytes fluorescence in situ hybridization (FISH), gonad fibroblasts FISH and gonad fibroblasts G-banding technique, in addition to the conventional peripheral lymphocytes G-banding technique. In Case 1, the percentage of the 45,X cell line in lymphocytes decreased after birth and detection of mosaicism could only be done by karyotype of gonads at 7 mo of age. In Case 2, FISH analysis with peripheral lymphocytes was more useful for detecting low frequency mosaicism. In all cases, phenotype of gonads and external genitalia were more consistent with karyotype of gonads than that of the peripheral lymphocytes G-banding technique. In conclusion, conventional G-banding karyotype analysis with peripheral lymphocytes has limitations in the diagnosis and evaluation of MGD. Karyotype analysis by FISH or by using gonads is useful for diagnosing MGD and understanding of the phenotype of gonadal tissue.

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The aim of this study was to compare the therapeutic effects of rhGH administered either by subcutaneous needle-injection (pens) or subcutaneous needle-free jet-injection (VISION^®). Furthermore, a survey was carried out after using VISION^® for 12 mo. A needle-free injection group consisting of 18 subjects (11 males and 7 females, mean age 5.87 ± 2.05 yr at the start of hGH therapy) who have not used pen injectors to date, were allowed to use VISION^® in their third to fifth years of GH therapy. In addition, a group of 8 subjects who had been using pen injectors at our clinic (6 males and 2 females, mean age 6.54 ± 2.78 at the start of GH therapy) was monitored as a control. The results indicate that there are no significant differences between the mean growth rates, growth rate SD scores or height SD scores when comparing injection devices. Furthermore, the survey of VISION^® revealed that 70% of the subjects found it slightly or not painful at or after injection, 70% found VISION^® very easy or easy to use, and 80% found the weight of the device appropriate. All subjects expressed a desire to continue using VISION^® in the future. Our results suggest that there are no problems with the effectiveness of hGH treatment with VISION^®, a needle-free jet-injection device and that VISION^® is an effective device for children who have an aversion to needle injection.

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