Innere Sekretion

Bauer, Julius

doi:10.1007/978-3-642-91373-0

Cited by 134 publications

(5 citation statements)

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“…(Franceschetti, 1930;Franceschetti and Streiff, 1936;Stroesco, 1936;van Bogaert, 1938). (2) That the syndrome was determined by two or more genes (Bauer, 1927;Rieger and Trauner, 1929;Savin, 1935;Cockayne and others, 1935;Sorsby .and others, 1939). , Reiger and Trauner (1929) thought that the mesoblastic and epiblastic parts of the syndrome were recessive and due to mutations of two genes in the same chromosome, one causing the abnormalities of the ectoderm and the other of the mesoderm.…”

Section: Discussionmentioning

confidence: 99%

Laurence Moon Biedl Syndrome

Ram¹,

Rohatgi²

1958

British Journal of Ophthalmology

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THE syndrome, consisting of obesity, hypogenitalism, polydactyly, mental retardation, and retinal changes of the retinitis pigmentosa type, is recognized as a clinical entity. It is, however, unusual to find all the manifestations of the syndrome in a single case. The case described here is interesting in that it presented as a complete syndrome. Case ReportA boy aged 10 years was brought to the children's out-patient department of the Patna Medical College Hospital on account of his abnormal flabbiness and mental deficiency. In addition he had not been able to see very well for some time, particularly at night.He was the third child of his parents, who were healthy and not consanguineous. The family, traced to four generations on the father's side and three on the mother's, was essentially normal with no history of consanguinity. Two children, a brother and sister, had died in infancy, and as far as could be ascertained showed no ocular or general manifestations of the syndrome. The patient's surviving sister was 12 years old and normal in all respects. His younger brother was aged 4 years, was quite intelligent, but had supernumerary fingers-seven on the right hand, and six toes on both feet. His ocular and general examinations revealed no other abnormality.Examination.-The patient was obese, and of short stature (height 3 ft 4 in.), and weighed 8 stone. He was dull and listless, and had not started speaking until the age of 5 years.There was a marked accumulation of fat in the abdominal wall, thighs, hips, and shoulders. Breast and abdomen were pendulous. The genitalia were under-developed with testis descended in scrotum. A supernumerary finger was attached to the little finger of each hand and the right little toe.Ophthalmic Examination.-There was a fine horizontal nystagmus more marked in darkness. The visual acuity in both eyes was reduced to counting fingers at one metre only. The patient walked unaided in the day, but found great difficulty at night or in darkness and often had to be guided.The extra-ocular muscles were normal and the pupils were normal in size and reactions. The ocular media were clear.Fundus Oculi.-Both discs were pale and waxy-looking with a normal physiological cup. The retinal arteries showed marked attenuation, many appearing as mere threads. Pigment was irregularly distributed all over the fundus with no preference for the equatorial or macular areas. The pigment deposits were varied in size and shape and arranged *

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Section: Discussionmentioning

confidence: 99%

Laurence Moon Biedl Syndrome

Ram¹,

Rohatgi²

1958

British Journal of Ophthalmology

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“…Das psychische Trauma, Kummer und Sorgen, die durch finanziel le Rückschläge, Tod der Eltern, Geburt eines Kindes, entstanden sind, werden körperlichen Entwicklungen gleichwertig gegenübergestellt und sollen eine Gleichgewichtsstörung im neuroendokrinen System verursa chen [Bauer, 1927;Bertram, 1950;Lichtwitz, 1923;Kehrer, 1947;u. a.].…”

Section: G Schwöbel Zürichunclassified

Psychosomatik der Adipositas

Schwöbel¹

1972

Gynäkol Geburtshilfliche Rundsch

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“…A constitutional, that is genically determined type of precocious puberty occurring in several members of a family has been generally recognized after E. Novak's publication of 9 pertinent cases in 1944 (7). It had escaped the attention that this variety of precocity which cannot be accounted for by a disease or abnormality of an endocrine gland or the central nervous system had been described and discussed long before (2). It is due to a mutation of a gene or gene-complex that controls the speed of the evolutive process (8).…”

Section: J Bauer: the Close Association Of Endocrinology Etcmentioning

confidence: 99%

The Close Association of Endocrinology with Genetics in Clinical Medicine

Bauer

1960

Acta genet. med. gemellol.

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The science of endocrinology and the science of genetics were born at about the same time around the onset of the 20th century. Both genes and endocrine hormones are integrative agents within the frame of an individual being. The genes, as we know them today, control specific enzymatic processes that are operative at various parts of the body, at different organs, tissues and functions. Hence the pleiotropic effect of one gene and the widely distributed manifestations of mutations of more than one gene, localized close together in the same chromosome (linkage of genes). The action of endocrine hormones extends upon various organs and functions; their integrative function needs no further discussion. It is not always sufficiently appreciated that hormonal effects depend to a large extent on the response of the target organs which, in turn, is determined by both their genetic and acquired reactivity. Thus the genetic set-up controls not only the activity of endocrine glands but also their effect on their target organs. The proper consideration of such interaction of genes and hormones is indispensable for the understanding of the variability of the clinical picture of human diseases with evident abnormalities of endocrine function.It stands to reason that investigation of endocrine integration preceded by far that of genetic integration. The first operates with morphological and biochemical entities which can be studied with available clinical and laboratory methods. The latter depended on methods applicable only to plants, insects and other small, shortlived animals with rapid sequence of generations. For the study of human genetics these methods are unsuitable and must be replaced by others. At the initial phase of human genetics tangible media were lacking and speculative imagination was indispensable for the interpretation of facts presented by nature in abundance. As late as 1952 discussion of genetic integration in humans was considered " philosophical " by an American clinician (1). Unintelligible clinical observations of multiple aberrations from a normal constitution were attributed to some puzzling glandular disturbances or altered interrelationship of various glands. This was the customary hypothetical conception in central Europe until the third decade of the century. Not before that time had it been realized that many clinical observations require an explanation quite different from or additional to a purely endocrinological one.

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Innere Sekretion

Cited by 134 publications

References 0 publications

Laurence Moon Biedl Syndrome

Laurence Moon Biedl Syndrome

Psychosomatik der Adipositas

The Close Association of Endocrinology with Genetics in Clinical Medicine

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