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  • 1
    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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  • 2
    ISSN: 1432-1076
    Keywords: Multiple congenital anomaly/mental retardation (MCA/MR) syndrome ; Growth disturbances ; Increased headsize ; Hypotonia ; Imperforate anus ; Partial agenesis of corpus callosum ; Pyloric stenosis ; Generalized dilatation of urinary tract ; Hypoplastic left heart defect ; Syndactyly of toes and/or fingers ; Craniosynostosis ; X-linked inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated the FG syndrome and which consists of variable growth problems with a disproportionately large head, characteristic appearance and minor anomalies, imperforate anus, mild to severe mental retardation and congenital hypotonia; pyloric stenosis, hypoplastic left heart, generalized dilatation of the urinary tract, cutaneous syndactyly of third and fourth fingers, and severe craniosynostosis were seen each in 1 patient. Partial agenesis of the corpus callosum seen in 1 patient is suspected in another on the basis of EEG abnormalities. 1 boy died neonatally with congenital heart disease, and 2 others of pneumonia at 20 and 23 months. The FG syndrome is an X-linked recessive condition; heterozygotes appear grossly normal.
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  • 3
    ISSN: 1432-1076
    Keywords: Congenital hydrocephalus ; Stenosis of aqueduct of Sylvius ; Midline fusion of thalami and fornices ; Fusion of thalamus with basal ganglia ; Familial occurrence ; X-linked inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The neuropathologic findings in a case of hydrocephalus of the X-linked recessive aqueductal stenosis type have been studied and compared with those previously reported from the same pedigree as well as with other cases from the literature. Additional pathological findings not previously recorded included: absence of the septum pellucidum and corpus callosum with malformation of the corpora quadrigemina and partial midline fusion of the fornices and thalami and fusion of thalamus with basal ganglia. These new findings indicate a broader phenotypic spectrum of this form of congenital X-linked recessive aqueductal stenosis than was previously known. Additional data from a diagnostic/genetic study of severely mentally retarded individuals are cited to show that 4 out of 5 familial cases of hydrocephalus without spina bifida are compatible with X-linked inheritance.
    Type of Medium: Electronic Resource
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