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gonadal dysgenesis/obesidad
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10 resultados
Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity.
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Knockout (KO) mice lacking steroidogenic factor 1 (SF-1) exhibit a phenotype that includes adrenal and gonadal agenesis, impaired gonadotropin expression, and abnormalities of the ventromedial hypothalamic nucleus (VMH). Studies in rodents with lesions of the ventromedial hypothalamus have
Pituitary hyperplasia in a girl with gonadal dysgenesis and primary hypothyroidism.
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A 16-year-old Brazilian girl presented with severe growth retardation (-6.3 SDS), obesity, delayed pubertal development, facial dysmorphia, dry skin, and borderline low intelligence (IQ 89). Endocrinological evaluation showed primary hypothyroidism (no uptake of iodine-131 of the right thyroid
A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis.
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Disorders of sexual development are conditions where sexual phenotype and genotype are discordant. Genetic sex is determined at conception as the ovum is fertilised by a spermatozoon that contains either an X or Y chromosome. A complex pathway determined by genes and hormones leads to gonadal
Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause.
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Reproduction is essential for the survival of the species and is influenced by external factors such as smoking and exposure to chemotherapy as well as chronic disorders such as obesity and autoimmunity. Reproductive senescence, such as menopause, is also dependent on multiple intrinsic genetic
Body composition at menarche: The Frisch-Revelle hypothesis revisited.
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Figures for height and weight and derived values for total body water and fat were assembled for groups of girls with a variety of disorders to examine their conformity to the hypothesis of Frisch and Revelle that menarche occurs at a "critical" weight associated with a decline in metabolic rate and
Measurement of body fat in Turner syndrome.
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Fourteen individuals with the Turner syndrome (gonadal dysgenesis with X chromosome chromosome abnormalities) were evaluated for obesity using hydrostatic weighing and skinfold measurements. While skinfold estimates of body fat correlated well with clinical impression, hydrostatic weighing appeared
[Feminizing genital plasty in patients with intersexuality].
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Feminizing genitoplasty (FGP) involves modification of a hypertrophic clitoris, vaginoplasty, and modelling of the labia. FGP is performed during childhood and usually in one stage. In 1996-1999 30 patients with intersex were operated on. 25 girls with female pseudohermaphroditism caused by
Cardiovascular risk factors in Turner syndrome.
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Turner syndrome is due to haploinsufficiency of X chromosome genes that escape inactivation and associates female phenotype, short stature, gonadal dysgenesis, somatic stigmata, cardiovascular and renal anomalies and a large spectrum of other disorders (autoimmune thyroiditis, osteoporosis,
Morbidity in Turner syndrome.
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Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood.
Cardiovascular malformations and complications in Turner syndrome.
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BACKGROUND
Turner syndrome (gonadal dysgenesis with sex chromosome abnormalities) is recognized to be a disorder in which cardiovascular malformations are common. The prevalence and natural history of these findings, the risk for aortic dissection, and the occurrence of cardiovascular disease have
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