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  • 1
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 133 (1980), S. 75-76 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Sex determination ; Sex differentiation ; Gonadal development ; Genital development ; Hermaphroditism ; Pseudohermaphroditism ; Hypospadias ; X chromosome ; Y chromosome ; Feminizing testes syndrome ; Incomplete feminizing testes syndrome ; Endocrinology ; Evolution ; H-Y antigen ; XX-males ; XY-females ; Pseudo-vaginal perineoscrotal hypospadias ; Adrenogenital syndromes ; Prenatal diagnosis ; Linkage ; Autosomal dominant-male sex limited inheritance ; Autosomal recessive male sex limited inheritance ; X-linked inheritance ; Multi-factorial determination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Man is a gonochoristic species with male hetero- and female homogamety. The basic plan of gonadal and genital development in both sexes is female unless testes are induced by H-Y antigen which is usually specified by the Y chromosome. Genitalia can develop in either direction in both sexes. In males testosterone produced by testicular Leydig cells causes Wolffian duct differentiation, and the anti-Müllerian hormone, produced by testicular Sertoli cells, causes Müllerian duct regression. Testosterone has to be converted to dihydrotestosterone by a 5a-reductase in endorgans to effect normal male external genital development. Individuals without gonads or with ovaries develop female genitalia—i.e. the female is the “uninduced” sex. Sex determination begins with parental meiosis and extends to the onset of normal gonadogenesis; sex differentiation includes all subsequent sex-developmental processes. Hermaphroditism, a rare condition, is a defect of the former process (gonadogenesis), pseudohermaphroditism, a relatively common condition of the latter (genital differentiation). Male sex development, being actively induced, is much more complicated than in females, and affords many more opportunities for mishap. Gonosomal aneuploidy rarely disturbs sex development; most intersexes have normal chromosomes. In order of frequency the most common disorders are: 1) hypospadias—technically a form of external male pseudohermaphroditism, but never referred to as such in clinical practice; 2) non-specific, secondary male pseudohermaphroditism in isolated form or as component manifestation of many malformation syndromes; 3) the adrenogenital syndrome in females. Though less common than hypospadias, the adrenogenital syndrome must always be considered first in order to save life and to prevent recurrence. Genetic abnormalities of sex determination and sex differentiation in man are discussed together with experimental data elucidating the normal processes.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Autosomal recessive inheritance ; Sphingomyelin ; Sphingomyelinase defect ; Histochemical and ultrastructural studies ; Niemann-Pick disease type C
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two sisters with Niemann-Pick Disease Type C suffered from a progressive CNS degenerative disease which ended with death at 8 and 7 years. Light microscopic and histochemical studies revealed storage of lipid (principally sphingomyelin) in the viscera and in the central nervous system (predominantly ganglioside). Complex lipid cytosomes containing stacked membranes, concentric laminated bodies with central dense cores and pleomorphic profiles were seen. Biochemical analysis showed an elevation of sphingomyelin in liver and spleen with normal total sphingomyelinase levels. However, by isoelectric focusing, there was a marked reduction of sphingomyelinase activity in the range of pI 4.6–5.2, whereas normal amounts of more acidic components were found. These data are compatible with autosomal recessive inheritance of a sphingomyelin lipidosis associated with deficiency of isoelectric forms of sphingomyelinase.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 133 (1980), S. 173-173 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    Signatur Availability
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  • 7
    ISSN: 1432-1076
    Keywords: Diabetic embryopathy ; Caudal regression ; Dandy-Walker malformation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe the fetus delivered to an insulin-dependent diabetic woman who had had a previous large, stillborn, non-malformed male infant and a normal female infant. The present fetus had a most unusual combination of malformations which to date had not been described in diabetic embryopathy. The anomalies include: upper limb amelia; “caudal regression” with bilateral absence of the fibulae, unilateral absence of a femur and ipsilateral oligodactyly; undescended testes; atrial septal defect; multiple vertebral and rib anomalies with cervical scoliosis and right webbed neck; left cleft lip and cleft palate; severe micrognathia; left microtia with atresia of the ear canal; and central nervous system defects including hydrocephalus with the Dandy-Walker malformation, asymmetry of the lateral ventricles, abnormal frontal gyral formation, and ependymal and ganglion cell heterotopias of the spinal cord. The pathogenesis of diabetic embryopathy is discussed.
    Type of Medium: Electronic Resource
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