Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics.

In Sapporo, Japan, a neonatal screening program for congenital hypothyroidism (CH) has employed measurement of free thyroxine (T4) and TSH in the same filter-paper blood spot. This system has enabled us to identify primary CH and central CH during the neonatal period. The aim of this study was to clarify the prevalence and clinical characteristics of central CH. For this purpose, the screening program requested serum from infants with free T4 concentrations below the cut off value regardless of the TSH levels. Between January 2000 and December 2004, 83,232 newborns were screened and six central CH patients were detected as a result of follow-up of low free T4 and non-elevated TSH screening (1:13,872). This frequency is higher than in other studies. Four patients showed multiple pituitary hormone deficiency with pituitary malformations on magnetic resonance imaging. One patient was diagnosed as having Prader-Willie syndrome. The remaining patient was considered to have isolated central CH. Our study demonstrated that the frequency of central CH is 1:13,872. Free T4 measurement would also be advantageous in early recognition of multiple pituitary hormone deficiency.

Two children with xanthogranuloma of the sellar region.

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.