Generally speaking, the gene for sterility is eliminated from the population in every generation, so the genetical malformation in sexual organs may not be observed in a population for many years. But in domestic animals, sometimes, small number of males are used as sires in a population continuously. If the sires were carriers of a gene for sexual malformation, defective animals in sexuality may appear in the population, and the frequency of occurrence of the malformation may increase by generations. The intersexes in milk goats and in swine are the typical example, as noted above. The intersex in goats and swine had both male and female structures, i. e., vasa deferentia and uterine horns, which derived from Wolffian and Mullerian ducts, respectively. And external appearance of intersexes showed much variation, namely, some of them had malformed penis, but many of them had large clitoris, resembling the glans penis. Some intersexual goats showed the female characteristics so remarkably that they were kept by owners as normal females for several years. The gonad of intersex was ovotestis in female-type and testis-like in others. Between these two, there were numerous histological deviations. The genetical sex of the intersex must be female, and the gene of intersexuality is an autosomal recessive, and acts in female only when homozygous.

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Congenital hypothyroidism is well-recognized disease that retards growth and mental development. The causes of thyroid hypofunction in the infant are as follows. I. Defective TSH metabolism A. Hypothalamic (tertiery) hypothyroidism. B. Hypopituitary (secondary) hypothyroidism. II. Primary hypothyroidism A. Impaired thyroid response to TSH. B. Defects in thyroid hormone synthesis or metabolism. 1) Iodine trapping defects, 2) Organification defect, 3) Coupling defect, 4) Deiodinase defect, 5) Defects of thyroglobulin metabolism C. Exogeneous 1) Iodine deficiency, 2) Antithyroid substances D. Autoimmune mechanisms. E. Thyroid dysgenesis. 1) Athyrotic, hypoplastic, 2) ectopic III. Tissue refractoriness to thyroid hormone. In this paper, the outline of the disease is reviewed and new syndromes, "congenital isolated TSH deficiency" and "transient infantile hyperthyrotropinemia" which we first found are described. The etiology of neonatal hypothyroidism due to congenital thyroid dysgenesis has been extensively studied but has not yet been clarified. We found that the frequency of HLA antigen in this disease was abnormal and that the incidence of the disease showed seasonal variation in the Osaka area and throughout Japan. Therefore, we propose the hypothesis that both the genetic background and environmental factors, such as viral infection, cause this disease.

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This study was performed to determine the relation between the ultrastructural development in the hippocampus and the behavioral alterations in open-field and avoidance situations in rats exposed to electric stimulation during neonatal stages. Albino SD rats were assigned to Early Stimulation (ES) and Intact (Int) group. ES group was delivered an electric shock (75 Vac through a 250kohm resistor, 150 sec) from 3 to 10 postnatal days, whereas Int group given no treatment. I) Behavioral : On 20 and 40 postnatal days, rats were given an open-field test. On 53 days, rats were given one-way avoidance conditioning under the different US intensity. II) Morphological : On 21 days, rats were fixed by perfusion with Karnovsky's fixative. Samples of the hippocampus were post-fixed b-J osmium tetroxide. Specimens were observed by electron microscope. In open-field situation no statistical differences between the groups were obtained. Analysis of variance on the number of avoidance showed that Shock Intencity × Groups interaction was significant. Nuclear chromatin in the pyramidal cells was more dispersed and immature synapses were observed more frequently in the ES group compared with those in the Int group. These results suggested that the neonatal electrical stimulation might affect the behavioral and morphological developments.

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The relationship between allergic immune reaction in the mother and congenital malformations in the fetus was investigated. CF#1 mice were used, and virgin females were immunized subcutaneously (s.c.) with 0.1 mg of bovine serum albumin (BSA). Antigen was administered as an emulsion with saline and Freund complete adjuvant. Anaphylactic immune reaction was induced in females by either intravenous (i,v.) or intraperitoneal (i.p.) injection of BSA (0.05-0.5 mg) on day 8.5 of pregnancy. The mothers were laparotomized on day 18.5 of pregnancy and fetuses were obtained. The rate of fetal malformations in the anaphylactic shock group was 3.2% (10/317). It was significantly higher than that in the control group (p<0.05). On the other hand, when an excess dose of BSA (50 mg) alone was injected to the mothers (i.p.) on day 8.5 of pregnancy, a similar malformation rate (3.4%, 3/89) to that in the anaphylactic shock group was obtained. From the findings above-mentioned, it can be inferred that the allergic immune reaction and also introduction of large amount of heterologous protein during early pregnancy have a harmful effect upon the embryonic development.

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A female infant is reported, in whom the diagnosis of "18q-" syndrome was made on clinical grounds before karyotype analysis. The principal clinical findings included growth and mental retardation, frontal bossing, large ears with a prominent antihelix, and mandibular prognathism. Other minor anomalies were present as well. Cytogenetic analyses demonstrated partial deletion of the long arm of one chromosome 18 in the patient and normal chromosomes in the parents. The dysmorphic features of the face and ears are characteristic and should alert the pediatrician to suspect the diagnosis. A chromosome analysis will establish the diagnosis and is therefore indicated in patients with these specific craniofacial malformations.

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A patient with Aicardi syndrome is presented. She had the characteristic features of Aicardi syndrome and some other features. The other features were optic atrophy and low density areas of skull with the cranial computerized tomography at the bone window view (window level :200, window width : 1 200). The optic atrophy may be the spectrum of features of Aicardi syndrome. The low density areas of skull with the cranial computerized tomography may be the spectrum of features of Aicardi syndrome or complication of unknown bone disordes.

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A retrospective study of mothers of cleft children indicate a high incidence of gingivitis (55.6%) during pregnancy when compared with a control group of mothers of normal children (7.7%). This has important implications with regard to early prediction of the possibility of bearing a cleft child. Further studies on a cause-effect relationship should be carried out.

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Frequently we need to accept a null hypothesis from nonsignificant results despite the fact that the statistical power is low. In this situation, there is a practical method that produces sufficiently high power by raising the level of significance criterion, i.e., by using less stringent significance criterion. Useful tables for the calculation of significance criteria are presented, together with an example for the use of the tables.

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