Journal ArticleDOI
Inherited congenital normofunctional testicular hyperplasia and mental deficiency.
J. M. Cantú,H. E. Scaglia,Martha Medina,M. González-Diddi,T. Morato,M. E. Moreno,Gregorio Pérez-Palacios +6 more
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TLDR
Four 46,XY siblings with congenital bilateral megalorchidia, macrogenitosomia, and severe mental deficiency were investigated and demonstrated the existence of normofunctional testicular hyperplasia.Abstract:
Four 46,XY siblings with congenital bilateral megalorchidia, macrogenitosomia, and severe mental deficiency were investigated. The testicular size was significantly larger than age-matched normal males. A normal hypothalamic-pituitary gonadotropin function was demonstrated by the finding of normal levels of luteinizing and follicle-stimulating hormones in blood samples drawn at frequent intervals and by normal responses to gonadotropin-releasing hormone and testosterone adminstration. A normal testicular function was shown by the finding of normal (a) plasma testosterone and estradiol levels, (b) gonadal response to human chorionic gonadotropin, (c) sperm analysis, and (d) morphology and cell architecture of the testes. Adrenal function was found to be within normal limits. These results demonstrated the existence of normofunctional testicular hyperplasia. The family studies suggested that this distinct congenital disorder is inherited as an X-linked recessive trait.read more
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Adult fragile X syndrome. Clinico-neuropathologic findings.
R. Rudelli,W. T. Brown,Krystyna E. Wisniewski,E. C. Jenkins,M. Laure-Kamionowska,F. Connell,H. M. Wisniewski +6 more
TL;DR: A postmortem examination of a 62-year-old, moderately retarded man with Fragile X syndrome confirmed the preferential involvement of cerebral and testicular structures in this disorder.
Journal ArticleDOI
The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities
TL;DR: One patient died; neuropathological studies showed mild brain atrophy, with light microscopic and ultrastructural abnormalities, in fragile X syndrome individuals with different degrees of developmental disabilities.
Journal ArticleDOI
The fragile X syndrome.
TL;DR: The cloning of the FMR1 gene led to the characterisation of its protein product FMRP, encouraged further clinical studies, and opened up the possibility of more accurate family studies and fragile X screening programmes.
Journal ArticleDOI
Ultrasound of the male genital tract in relation to male reproductive health
Francesco Lotti,Mario Maggi +1 more
TL;DR: MGT-CDUS is a useful tool in detecting abnormalities related to impaired male reproductive health and suffers from a lack of standardization and often produces subjective/vague diagnoses.
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X-linked mental retardation, macro-orchidism, and the Xq27 fragile site
TL;DR: The 25 affected males with macro-orchidism and Xq27 fra had some minor clinical features in common: there was an increase in birth weight, high forehead, prognathism, pale irides, big ears, and an increased head circumference in infancy and childhood which did not persist into adult life.
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Journal ArticleDOI
Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism
TL;DR: In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical evaluation reveals a marked decrease in plasma dihydrotestosterone secondary to a decrease in steroid 5α-reductase activity.
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Testosterone Formation and Metabolism During Male Sexual Differentiation in the Human Embryo
Pentti K. Siiteri,Jean D. Wilson +1 more
TL;DR: It was concluded that testosterone is the principal androgen formed by the fetal testis at the time of male sexual differentiation.
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Studies on human sexual development. II. Fetal and maternal serum gonadotropin and sex steroid concentrations.
TL;DR: Both fetal and maternal “hCG-LH” levels declined with fetal age, with no apparent sex difference, and overall mean E2 levels in the females were higher than in the males.
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X-linked mental retardation associated with macro-orchidism.
TL;DR: Two families are described with an X-linked form of mental retardation in whom the affected males were found to have bilateral enlargement of the testes and no conclusive evidence of any endocrine disturbance was found.