Synaptic Dysgenesis

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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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Athabascan brainstem dysgenesis syndrome.

We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vo...

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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 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 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: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

سال: 1991

ISSN: 0317-1671,2057-0155

DOI: 10.1017/s0317167100031644