PO-0093 Familial Pure Gonadal Dysgenesis

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منابع مشابه

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

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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Gonadoblastoma Occurring in a Patient with Familial Gonadal Dysgenesis

Recent morphologic and histogenetic studies provide a basis for the classification of testicular and ovarian tumors of germinal, mesenchymal, and sex cord origin. That gonadal tumors in the male and female are identical and homologous' 44 is attributed to totipotentiality of the cellular components that contribute to the formation of the gonad. Seminoma, embryonal carcinoma, teratoma, and chori...

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Familial Pure Gonadal Dysgenesis with 46, XY Karyotype in Three Siblings and Gonadoblastoma in the Youngest Sibling

The occurrence of gonadoblastoma in XY phenotypic females has been well documented. This condition may rarely present in a familial form. In this present study, we present a family of 5 siblings born of non-consanguineous parents. Three sisters (age 13, 15 and 17 years) with XY karyotype presented with complaints of primary amenorrhoea. They had a normal female phenotype. The younger two brothe...

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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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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 2014

ISSN: 0003-9888,1468-2044

DOI: 10.1136/archdischild-2014-307384.762