To elucidate the mechanism of insulin resistance due to insulin counterregulatory hormones (ICRHs) and evaluate ICRH secretion kinetics, ICRH concentrations were measured and correlated with blood glucose levels in 28 type 1 diabetic patients. Blood glucose was measured before bedtime. Early morning urine samples were collected the next morning before insulin injection and breakfast. Fasting blood glucose, cortisol, glucagon and HbA1c levels were measured. Growth hormone (GH), adrenaline, cortisol and C-peptide levels in morning urine samples were measured; SD scores were calculated for urine GH. The laboratory values (mean ± SD) were as follows; HbA1c of 8.1% ± 1.4%; pre-bedtime glucose of 203 ± 105 mg/dl; fasting blood glucose of 145 ± 87 mg/dl; serum cortisol of 21.6 ± 5.5 μg/dl; plasma glucagon of 98 ± 41 pg/ml; urinary GH, 27.2 ± 13.0 ng/gCr; urinary cortisol of 238 ± 197 ng/gCr; and urinary Adrenaline of 22.9 ± 21.0 ng/gCr. The mean urinary GH SD score was increased (+1.01 ± 0.70; p=0.000); the mean plasma glucagon lebel (98 ± 41 pg/ml) was not. Fasting blood glucose was positively correlated with plasma glucagon (R=0.378, p=0.0471) and negatively correlated with urinary cortisol (R=–0.476, p=0.010). Urinary adrenaline correlated positively with urinary GH (R=0.470, p=0.013) and urinary cortisol (R=0.522, p=0.004). In type 1 diabetes, GH, glucagon and cortisol hypersecretion may contribute to insulin resistance, but the mechanism remains unclear.

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Premature thelarche in later childhood (such as at 5–7 yr of age) is not always easy to distinguish from GnRH-dependent precocious puberty. In this study, a GnRH stimulation test was performed on 21 girls from 5 to 7.5 yr of age with early breast development. In 8 of 11 girls within 1 yr after thelarche, i.e., breast development, the GnRH stimulation test showed a prepubertal response, and in all 10 girls at more than 1 yr after breast development, the GnRH stimulation test showed a pubertal response. In observations of 4 girls with a prepubertal response, the GnRH stimulation test showed to a pubertal response by 1 yr or more after breast development in 3 of 4 the girls. These results indicate the possibility that almost all cases of breast development in later childhood consist of premature thelarche and that premature thelarche in later childhood may easily lead to early puberty at 1 yr or more after breast development. Careful observations are therefore recommended for at least 1 yr, even if early breast development is considered to be associated with premature thelarche in later childhood.

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It is sometimes difficult to confirm the location of a microadenoma in Cushing disease. Recently, we experienced an 11-yr-old female case of Cushing disease with hyperprolactinemia. She was referred to our hospital because of decrease of height velocity with body weight gain. On admission, she had typical symptoms of Cushing syndrome. Although no pituitary microadenomas were detected on 1.5 Tesla MRI of the brain, endocrinological examinations including IPS and CS sampling were consistent with Cushing disease with hyperprolactinemia. Oral administration of methyrapone instead of neurosurgery was started after discharge, but subsequent 3 Tesla MRI of the brain clearly demonstrated a 3-mm less-enhanced lesion in the left side of the pituitary gland. Finally, transsphenoidal surgery was performed, and a 3.5-mm left-sided microadenoma was resected. Compared with 1.5 Tesla MRI, 3 Tesla MRI offers the advantage of a higher signal to noise ratio (SNR), which provides higher resolution and proper image quality. Therefore, 3 Tesla MRI is a very useful tool to localize microadenomas in Cushing disease in children as well as in adults. It will be the first choice of radiological examinations in suspected cases of Cushing disease.

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Fabry disease (FD) is an X-linked recessive disorder caused by lysosomal α-galactosidase A deficiency. FD is characterized by the systemic accumulation of globotriaosylceramide with involvement of the heart, kidney, brain and gastrointestinal system. Recently, nonautoimmune thyroid dysfunction was recognized as an additional clinical feature of FD. In the present study, we describe a patient suffering from FD superimposed on overt autoimmune hypothyroidism. The patient was an 11-yr-old boy who presented with goiter and stunted growth, and was diagnosed with primary hypothyroidism due to autoimmune thyroiditis. During levothyroxine replacement therapy, the patient complained of burning pain in his feet and was diagnosed as suffering from FD based on low blood α-galactosidase A activity. In conclusion, we have described the first FD patient preceded by overt autoimmune hypothyroidism.

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