Twelve adult patients with growth hormone deficiency (GHD) were studied in regard to serum levels of immunoglobulins, immunoglobulin G (IgG) subclasses, natural killer (NK) activities, interferon (IFN) augmented NK activities and lymphokine activated killer (LAK) activities before and after one month of human growth hormone (hGH) treatment. They were compared with 114 age-matched controls. All the patients were diagnosed as having GHD in childhood and had been treated with hGH for more than 5 years. The present study was performed 1 to 7 years after the cessation of hGH treatment.
Serum immunoglobulin G₁ (IgG₁) levels and IFN augmented NK activities in the patients were significantly lower than in the controls, although NK and LAK activities of the patients were normal. Therefore it was concluded that NK and LAK activities were maintained at normal levels without hGH in adults who had been treated with hGH, although IFN augmented NK activities were reduced without it. It seems that longer treatment with hGH is needed to produce normal levels of serum IgG₁ and IFN augmented NK activities.

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We describe the case of a girl with precocious puberty caused by a posterior hypothalamic astrocytoma. She showed precocious puberty and laughing-crying episodes at one year of age without other neurological signs. CT depicted an isodense mass 2×2.5×2.5cm with calcification in the suprasellar region. This was not enhanced with contrast medium. MRI also disclosed that the mass originated from the posterior hypothalamus and compressed the midbrain and thalamus. T1 image showed isointensity, but the T2 image was high intensity with the homogeneous mass and was not enhanced with Gd-DTPA. These clinical and radiological findings were similar to those of a hypothalamic hamartoma, but histological examination verified an astrocytoma. If the configuration of an intracerebral mass is not typical of hamartoma, biopsy is recommended.

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An adult patient with growth hormone deficiency (GHD) who showed signs of hyperthyroidism during growth hormone (GH) treatment.
The patient was a 58-year-old male who contracted GHD, tertiary hypothyroidism, and hypogonadotropic hypogonadism and received levo-thyroxine (1-T4) (150μg/day) and testosterone enantate replacement therapy (125mg/2weeks, i. m.). Three months after the GH treatment was started, he began to notice increased perspiration and decreased body weight. Just before he noticed these signs, his serum triiodothyronine (T3) was 2.6ng/ml and T3/T4 ratio was 0.22; we therefore made the diagnosis of hyperthyroidism. After we reduced the 1-T4, these signs disappeared.
Although there are some reports about the effects of GH administration on thyroid function, there is no report of hyperthyroidism in a GH deficient patient during GH therapy. It is well known that peripheral conversion of T4 to T3 is increased by GH. But it is possible that the appearance of hypothyroidism or hyperthyroidism during GH treatment is caused by differences in the basal thyroid function or in the dosage of replacement therapy.

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New cross-sectional SD growth charts from birth to maturity were drawn up, using the most recent national data. The report on mean (M) and standard deviation (SD) of height and weight of children at each year of age between 5 and 17, surveyed by the Japanese Ministry of Education in 1990, and growth data on infants and preschool children under 6 years surveyed by the Ministry of Health and Welfare in 1990, were used as the basic data for the present study. The mean heights and weights were plotted on a graph and respectively connected to form smooth curves by eye-fitting technique, and the mean growth curves were constructed. M±SD and M±2SD of height and weight were plotted at points distant one and two SD from the mean growth curve, respectively, and these points were connected smoothly to construct an SD growth curve superimposed on the mean growth curve.

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The size of the right adrenal gland was ultrasonographically evaluated in nine neonates, who had elevated filter paper 17-hydroxyprogesterone concentrations in the neonatal screening and/or clinical presentation with genital hyperpigmentation. Ultrasonograms revealed that three of these neonates had an enlarged adrenal gland, and based on subsequent hormonal measurements and their clinical signs, all three were diagnosed as congenital adrenal hyperplasia due to a 21-hydroxylase deficiency. Sonography also revealed that the adrenal gland of the remaining six neonates was normal in size and they also were found to be hormonally normal. We conclude that sonographic measurement of the adrenal gland is a useful adjunct to achieving the diagnosis of congenital adrenal hyperplasia in the neonatal period.

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Sixty-eight children with non-endocrine short stature (NESS) were treated with recombinant human growth hormone (GH) for two years. The patients consisted of 20 children with familial short stature (FSS; Group A), 17 children with small-for-date short stature (SFD; Group B), 5 children with combined FSS and SFD (Group A+B), and 26 children with idiopathic short stature (ISS; Group C). GH treatment significantly increased height velocity, height SD score (SDS), and height velocity SDS for chronological age (CA) in NESS. The mean height velocity was increased by GH treatment from 4.4cm/year to 7.1cm/year in the first year and 6.3cm/year in the second year, the mean height SDS from -3.07 SD to -2.63 SD in the first year and to -2.42 SD in the second year, and the mean height velocity SDS for CA from -1.66 SD to 1.62 SD in the first year and to 0.66 SD in the second year. Among the four groups, there was no significant difference in the effect of GH treatment judged by height velocity or height velocity SDS for CA. However, the treatment tended to be less effective in group A+B. There was no significant difference among the four groups in the increase in height SDS.
Seventeen children developed puberty during the two-year GH treatment: 7 in the first year and 10 in the second year. The mean height and age at the onset of puberty in 17 patients were 136.0 (±9.7) cm and 12.23 (±0.86) years in male, and 129.1 (±5.5) cm and 11.3 (±0.7) years in female patients, respectively. The height at the onset of puberty was shorter than that of normal children. Since it is known that children who develop puberty at short stature remain short, it is probable that the patients who developed puberty at short stature in this study will remain short as adults. The effect of treatment evaluated by the height SDS for BA was not improved. The effect of GH treatment in children with NESS should be carefully evaluated by conducting a long-term follow-up.

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The case of a monozygotic twin, discordant for congenital hypothyroidism, is reported. The monozygosity of the twins was established by typing for 23 different hematogenetic marker gene-systems, with DNA fingerprint analysis. The sublingual thyroid in this patient was probably due to an intrauterine disorder of unknown origin which spared his brother.
This case supports the hypothesis that environmental, rather than genetic factors, are the cause of ectopic thyroid dysgenesis.

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Mutations in the steroid 21-hydroxylase gene (CYP21B) were characterized in 24 Japanese patients with classical 21-hydroxylase deficiency (21OHD). Polymerase chain reation (PCR) followed by Taq I digestion was performed to detect large losses of CYP21B sequences on ethidium bromide stained gels. Two of the 24 cases showed large losses of CYP21B in both alleles, probably due to a deletion or large gene conversion, and both patients were salt losers. Using PCR followed by allele-specific oligonucleotide (ASO) hybridization, seven known point mutations in CYP21B due to gene conversion with a homologous pseudogene (CYP21A) were surveyed with normal and mutant probes. We found CYP21B point mutations in over 90% of our cases. Among them, a mutation to G in intron 2 (I2g) was the most frequent, for which 30% (6/20) of the salt-losing patients were homo- or hemizygous. One of four simple virilizers was homo- or hemizygous for an A to T mutation in exon 4 (E4IN). Six cases (25%) were supposed to be due to a compound heterozygote. Thirteen of 24 (54%) of our subjects could be diagnosed genetically as 21OHD by these methods alone. One affected sibling pair shared an identical mutation pattern in spite of discordant clinical phenotypes. This raises the possibility that non- or epigenetic factors may contribute to the development of the clinical features of this disease, although it depends roughly on the severity of the enzyme defect caused by the genetic abnormality. The methods described here are simple and practical enough for mutation detection and applicable for prenatal genetic diagnosis.

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