Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five boys with familial cytomegalic adrenocortical hypoplasia have been followed up for an average of 19 years. Despite treatment with replacement corticosteroids, all 5 failed to show a spontaneous onset of puberty and, when assessed at ages 13 to 19 years, all had both sexual infantilism and skeletal immaturity. Hypogonadism was confirmed by low levels of plasma testosterone, and pituitary reserve of gonadotrophin was shown to be inadequate by testing with gonadotrophin-releasing hormone. Two boys, both with adequate testosterone output on human chorionic gonadotrophin stimulation, were given gonadotrophin therapy, whereas the other 3 were treated with parenterally administered testosterone. With treatment, all 5 patients showed advances in pubertal staging. Although the mechanism of the hypogonadotropism remains unclear, the association of hypogonadotrophic hypogonadism with familial cytomegalic adrenocortical hypoplasia appears to be a constant one and may be considered as a treatable inherited syndrome of pubertal failure.
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PMID:Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. 719 7

The clinical classification of mental retardation is reported. Three main clinical groups were screened: 1) mental retardation, due to the immaturity of the emotional-volitional sphere (different forms of mental infantilism); 2) mental retardation due to disturbances in the cognitive sphere (in stable neurodynamical and encephalopathic disturbances, deficiency in the higher cortical and subcortical functions; in disturbed regulation of cognitive activity); 3) general mental retardation, due to a combination of a disturbed cognitive sphere with organic infantilism. The paper concerns differential criteria for oligophrenia. It is recommended that children with stable retardation of the cognitive sphere be taught in special schools.
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PMID:[Clinical systematics of retarded mental development]. 739 20

An aim of the study was to specify peculiarities of the clinical dynamics of organic psychic infantilism and psychopathological presentations of this disorder in adolescence. A significant prevalence of psychic infantilism caused by organic CNS damage in patients seeking psychiatric help in adolescence and a negative effect of this disorder on social adaptation in this period of life were found. Sixty-seven patients, aged 15-18 years, (ICD-10 diagnosis F06) with signs of psychic infantilism were studied. In these cases, psychic infantilism encompassed all aspects of mental activity and manifested itself as a constant personality trait that caused the infantile type of reaction to the most of life situations. The clinical heterogeneity of organic infantilism determined by the different degree of psychic immaturity in some areas of psychic activity and concomitant encephalopathy symptoms was noted. This allowed to single out 3 groups of patients: with domination of psychic infantilism in volition (28 patients), in emotional sphere (21 patients) and immaturity of cognitive functions (20 patients). The clinical heterogeneity of psychic infantilism likely reflects the character of CNS damage (localization and time of the damage) and specifics of related organic dysontogenesis.
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PMID:[Peculiarities of organic psychic infantilism in adolescents]. 2003 50