Females with Gonadal Dysgenesis: Cytogenetic and Molecular Analysis

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Gonadal dysgenesis

Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of congenital diseases with anomalies of the sex chromosome, the gonads, the reproductive ducts and the genitalia. DSD is loosely classified into four groups on the basis of histological features of the gonadal tissue: XX-DSD with two ovaries (female pseudohermaphroditism), XY-DSD with two testi...

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Gonadal dysgenesis with Graves's disease.

Hashimoto's thyroiditis has previously been associated with gonadal dysgenesis. Recent evidence suggests that Graves's disease and Hashimoto's thyroiditis are disorders of cell-mediated immunity and may have a common genetic predisposition. However, patients with both Graves's disease and the Turner syndrome have been reported only rarely. Three such cases are presented and the relation among g...

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Gonadal dysgenesis and ulcerative colitis. A case report with clinical, cytogenetic, and post-mortem studies.

In recent publications (Forbes and Engel, I963; Williams, Engel, and Forbes, I964) we have described the high incidence of diabetes and thyroiditis in a series of cases of gonadal dysgenesis and in their close relatives, and have pointed out that a number of diseases in which an auto-immune mechanism has been suspected have occurred in association with this chromosomal disorder. In these report...

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Familial XY gonadal dysgenesis.

Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...

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Gonadal dysgenesis diagnosed in infancy.

The patient was a 11%-month-old white female infant, whose mother was gravida III, para III. The pregnancy was entirely normal, with no virus infections or irradiation during the first trimester. The patient had edema of the dorsa of the hands and feet at birth. When she was first seen at 23 months the edema of the hands had subsided and the skin was very lax. The dorsa of the feet still exhibi...

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ژورنال

عنوان ژورنال: Journal of High Institute of Public Health

سال: 2008

ISSN: 2357-061X

DOI: 10.21608/jhiph.2008.20893