There has been little convincing evidence for the teratogenesis of antithyroid drugs. And there is little evidence for a causal relationship between maternal hyperthyroxinemia and malformations.In mothers with active Graves’ hyperthyroidism, maintaining free T4 levels within the normal range seems unlikely to cause mental retardation in their infants since hypothyroidism due to this treatment is mild enough and its duration is too short to affect intellectual development. Controlling maternal hyperthyroidism is important to avoid complications in pregnancy which indirectly affect infants. It may therefore be acceptable to maintain maternal free T4 levels within the normal range when hyperthyroidism has not been well controlled or there are complications, but close monitoring of the infant’s thyroid status is essential. When fetal hyperthyroidism is suspected in mothers who have reached remission status after surgery or radioiodine therapy for Graves’ disease, giving iodine to the mother may be beneficial for the fetus.

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A 23-year-old male with Kearns-Sayre syndrome (KSS) and diabetes mellitus (DM) was treated with cytochrome c (Cardiocrome^®). We evaluated the insulin secretion by glucagon loading test, as well as changes in DM control after the treatment. When the patient was diagnosed with DM, he had already presented with very low insulin secretion which further deteriorated with time. Symptoms found in KSS patients such as muscle weakness and sensory defects make control of DM more difficult. Cardiocrome did not ameliorate the insulin secretion, probably because almost all the β cells had already been irreversibly damaged. It was the improvement in the patient’s activity in daily life that was responsible for the decreased incidence of extreme hypo- or hyperglycemic episodes. Cardiocrome treatment for KSS may be useful in controlling DM at least through the improvement of the general life condition. For the direct effect on β cells, further investigation with more patients is necessary.

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We report on a boy exhibiting normally sustained growth under panhypopituitarism. At 17 4/12 years of age, endocrine studies were carried out because of absent pubertal development and mild polydipsia with polyuria, showing multiple anterior and posterior pituitary hormone deficiency including complete GH deficiency (peak GH level, below 0.05 ng/mL after insulin stimulation and 0.07 ng/mL after arginine stimulation). Brain MRI revealed pituitary hypoplasia and failed to delineate the pituitary stalk. Nevertheless, his height was 173 cm (mean + 0.6 SD) at 17 4/12 years of age, and increased to 178 cm (mean + 1.5 SD) at 19 6/12 years of age, with no GH treatment. The results suggest that “growth without GH” phenomenon can take place in panhypopituitarism resulting from pituitary hypoplasia, in addition to the post-operative status for brain tumors such as craniopharyngioma.

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Recently we reported that GH therapy might decrease the final height of boys with non-GH-deficient short stature. In this study we evaluated the effect of GH therapy on the final height of girls with non-GH-deficient short stature. Thirty-one girls with non-GH-deficient short stature who reached their final height were analyzed retrospectively. Patients in group A (n=11) were not treated with GH. Patients in group B (n=11) were treated with GH in doses of 0.5 IU (=0.17 mg)/kg per week. Patients in group C (n=9) were treated with a GH and cyproterone acetate combination in doses ranging from 50 to 100 mg/m²/day during puberty. GH or combination therapy with GH and cyproterone acetate did not improve the height SDS for BA during the therapy. The mean ± SD of the final height for groups A, B and C was 151.5 ± 5.3 cm, 150.2 ± 6.4 cm and 151.2 ± 4.1 cm, respectively. Neither GH therapy nor combination therapy with GH and cyproterone acetate affected the final height of girls with non-GH-deficient short stature. These results suggest that there are sexual differences in the effect of GH.

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We describe an infant with congenital lipoid adrenal hyperplasia complicated by dilated cardiomyopathy. The diagnosis of congenital lipoid adrenal hyperplasia was defined by steroidogenic acute regulatory protein gene analysis. The patient was a compound heterozygote with the Gln 258 Stop mutation in exon 7 and the Ala 218 Val mutation in exon 6, both of which are commonly found mutations in Japanese patients. The cardiomyopathy resolved after replacement therapy with glucocorticoid and mineralocorticoid. We speculate that an extremely high level of plasma ACTH might play a role in the pathogenesis of the dilated cardiomyopathy of this patient.

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An eleven-year-old boy with chronic myelogenous leukemia (CML) was treated by recombinant interferon-α (IFN-α) 6 × 10⁶ units per day intramuscularly for 6 months. Hydroxyurea (1000-500 mg per day) was added for one month during the 5th month of IFN-α therapy. Then a bone marrow transplantation (BMT) from his HLA matched sister was performed. His height gain during the 6 months on IFN-α was completely suppressed. His height increased 1.9 cm in the first year after BMT and then his height velocity accelerated with pubertal development. GH secretion was low at the end of IFN-α therapy when the pubertal growth spurt had not yet started. GH secretion examined 2 years after BMT when the patient was in puberty was almost normal. Complete suppression of height increase during IFN-α therapy in the patient might indicate that IFN-α directly affects the epiphysial growth plate rather than inhibition through the hypothalamic-pituitary axis. Growth impairment seems to be a serious side effect of long term and high dosage IFN-α therapy.

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We have attempted to clarify the significance of measurement of TSH receptor antibody (TRAb) in pregnant women with Graves’ disease to predict the development of neonatal Graves’ disease. The subjects were seventeen pregnant women with Graves’ disease and their newborns. Blood was taken from the pregnant women within two weeks before delivery and from the newborns within two weeks after birth. Thyroid function and TRAb of the newborns were followed. The correlation of TRAb between pregnant women and newborns was significant (n=12, r=0.8781, p<0.01). Four neonates developed hyperthyroidism. FT4 was elevated after a week in two neonates whose mothers had taken 6 tablets of PTU and 4 of MMI. Blood TRAbs in the umbilical vein from three neonates with hyperthyroidism were significantly high, 78%, 84% and 79%, and their TRAb levels were high at 2 months. One premature baby developed hyperthyroidism, even though his TRAb at 2 weeks was 36%. TRAb values of more than 70% in pregnant women predict the development of hyperthyroidism in newborns. The period of elevation of FT4 in neonates might be affected by antithyroid therapy to their mothers. SFD babies may develop hyperthyroidism, even if their TRAbs are less than 70%. This study shows the significance of TRAb measurement in pregnant women to predict the outcome of thyroid function in their babies.

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Thyroid dysfunction frequently occurs in women of childbearing age. Thyroid abnormality during pregnancy causes premature birth, miscarriage and toxemia of pregnancy. It also influences the thyroid function of newborn infants. In order to strengthen the neonatal screening program for congenital hypothyroidism, a screening program for thyroid dysfunction in early pregnancy was instituted in Hokkaido prefecture. TSH and free T4 in dried blood specimens from pregnant women were measured with commercial kits. This program contributed to the high frequent detection of thyroid dysfunction in pregnant women. Furthermore, to rapidly detect thyroid abnormality in infants and to investigate the screening effect, we checked the thyroid function of infants born to mothers with thyroid dysfunction at ages 1, 3 and 5 days. If the mother has hyperthyroidism, thyroid function measurements in infants born to mothers in a control group are transiently more abnormal than those in infants of screened mothers. Maternal hyperthyroidism is, therefore, better managed in screened women than in women in a control group. It is very important for the thyroid function of the fetus and newborns to control the maternal hyperthyroidism appropriately. Linkage of the two screening programs brought a synergistic effect to both.

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The aim of this study was to determine the prevalence of coeliac disease in 189 children and adolescents with type 1 diabetes mellitus (age range 10 months to 28.2 years). All patients were tested for gliadin IgA antibodies and endomysium antibodies. Twenty-three patients had high gliadin IgA levels and 14 had endomysium antibodies. Antibody positive subjects were selected for a small bowel biopsy. Biopsy was performed in 11 subjects: 1 refused, 1 was normal and 9 had subtotal or total villous atrophy suggestive of coeliac disease. The prevalence of coeliac disease in this large group of diabetic children, adolescents, and young adults was 4.8%, confirming that the risk of developing coeliac disease is substantially increased in diabetic children.

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