Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10 10/12 years old virilized girl with the syndrome of asymmetrical gonadal differentiation is reported. The patient had a negative sex chromatin and positive Y chromatin (bright fluorescent body of Y chromosome) in the buccal smear and 45,X/46,XY karyotype in the peripheral blood lymphocytes. An exploratory laparotomy showed a small uterus, two Fallopian tubes, a tumoural testis on the right side and a streak on the left side. Pathological examination revealed the presence of gonadoblastoma in both gonads. The Y chromatin was identified on histological sections only on the side of the testis, and was absent on the streak and its gonadoblastoma's nests. The distribution of the different cell lines and the fluorescence of the Y chromosome is discussed in relation to gonadal differentiation and the occurrence of gonadoblastoma.
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PMID:Asymmetrical gonadal differentiation and gonadoblastoma. Clinical, cytogenetic and histological findings. Case report. 124 81

The term of gonadal dysgenesis designates generically any anatomical alteration due to abnormal embryological development of a gonad. The spectrum of these gonadal abnormalities is large and includes the following entities: The gonadal agenesis is characterized by a rudimentary streak gonad. It is composed of a dense, hyalinized fibrous tissue in which the germ cells or the germ structures are entirely missing. Usually the gonadal dysgenesis is a bilateral and symmetrical lesion. The gonadal dysgenesis is characterized by the presence of residual germ structures (follicles or tubules). These structures can be more or less easily identified within a dense fibrous tissue. The gonadal dysgenesis alterations are often unilateral and always asymmetrical. Usually the ipsilateral gonad is a testis. The ovotestis is characterized by the coexistence within the same gonad of differentiated germ structures. Most commonly, the gonadal dysgenesis are associated with sexual chromosome abnormalities and an increased risk of neoplastic change (gonadoblastoma). This risk can reach 30% in the asymmetrical gonadal dysgenesis.
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PMID:[Gonadal dysgenesis and agenesis: anatomical expression]. 178 64