DISGENESIA GONADAL MIXTA PDF

Directory of Open Access Journals Sweden. A case report. Clitoridectomy was performed due to hypertrophy of the clitoris when she was 8. This study was completed with the molecular technique of polymerase chain reaction PCR and the SRY gene was identified in the marker chromosome. The patient underwent minimum access surgery and it was proved the absence of uterus and tube on the right side with no gonad and a rudimentary testis on the opposite side. Mixed gonodal dysgenesis was diagnosed.

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Publication date Print : April Journal: Salus. Publisher: Universidad de Carabobo. It should be diagnosed early due to risk of malignant transformation of gonads by the presence of Y chromosome in cell lines of the affected patiens. We report the case of a female infant of 11 motnhs old referred to gynecological pediatric consult of the Instituto Docente de Urologia in Valencia, Carabobo showing genital ambiguity since birth. Characteristics from the physical examination, clinical and therapeutic approach, with emphasis on the laboratory diagnostic methods, laparoscopy finding and gonadal biopsy are described.

The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak. In conclusion, MGD represents a social and medical emergency due to the presence of ambiguous genitalia and the risk of future malignant transformation of the gonads.

The clinical and therapeutic management should always be interdisciplinary. Data availability:. Read this article at SciELO. There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience. Ricardo Valdivieso: Role: ND.

Journal ID publisher : s. Title: Salus. Abbreviated Title: Salus. Publisher: Universidad de Carabobo Valencia. ISSN: Comment on this article Sign in to comment.

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Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY

PubMed Central. The epidermis of aerial plant organs is the primary source of building blocks forming the outer surface cuticular layer. To examine the relationship between epidermal cell development and cuticle assembly in the context of fruit surface, we investigated the tomato Solanum lycopersicum MIXTA -like gene. Fruit of transgenically silenced Sl MIXTA -like tomato plants displayed defects in patterning of conical epidermal cells. They also showed altered postharvest water loss and resistance to pathogens. Transcriptome and cuticular lipids profiling coupled with comprehensive microscopy revealed significant modifications to cuticle assembly and suggested Sl MIXTA -like to regulate cutin biosynthesis. Hence, Sl MIXTA -like is a positive regulator of both cuticle and conical epidermal cell formation in tomato fruit, acting as a mediator of the tight association between fruit cutin polymer formation, cuticle assembly, and epidermal cell patterning.

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Disgenesia gonadal mixta

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. The most common feature of MGD is asymmetric development of testes, often with a dysgenetic testis on one side and a streak gonad on the other.

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Disgenesia gonadal mixta.

Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. Corpus ID: Disgenesia gonadal mixta. Revista de la Facultad de Ciencias de la Salud. Universidad de Carabobo.

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