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      Síndrome de Frasier en una adolescente: asociación con disgenesia gonadal y enfermedad renal crónica Translated title: Frasier Syndrome in an adolescent: association to gonadal dysgenesis and renal chronic disease

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          Abstract

          RESUMEN Se describe el caso clínico de una adolescente de 16 años de edad, con aparente buen estado de salud, quien había sido atendida desde hacía 3 años aproximadamente en la consulta de Pediatría por presentar falta de desarrollo puberal, amenorrea primaria, así como aumento de volumen en miembros inferiores. Se le realizaron los exámenes complementarios pertinentes y dado el conjunto de elementos clínicos que presentaba, incluida una proteinuria significativa asociada a dismorfismos corporales e hipogenitalismo, se consultó el caso con un equipo multidisciplinario, integrado por nefrólogos, endocrinólogos, genetistas y psicólogos. Se le diagnosticó el síndrome de Frasier, como una asociación síndrome nefrótico-disgenesia gonadal.

          Translated abstract

          ABSTRACT The case report of a 16 years adolescent with apparent good health state who had been attended approximately for 3 years in the Pediatrics service to present lack of puberal changes, primary amenorrhoea, as well as increase of volume in lower members is described. The pertinent and complementary examinations were carried out and taking into account the group of clinical elements she presented, including a significant proteinuria associated with corporal dysmorfisms and hypogenitalism, the case was exposed to a multidisciplinary team, formed by nephrologists, Endocrinology specialists, geneticists and psychologists. Frasier syndrome was diagnosed, associated to nephrotic syndrome and gonadal dysgenesis.

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          Most cited references9

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          Gonadal Tumor in Frasier Syndrome: A Review and Classification

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            Síndrome nefrótico pediátrico

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              WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report

              Background: Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is characterized by severe gonadal dysgenesis, early-onset nephropathy and a predisposition to renal and gonadal cancer. Intron 9 splice-site mutations that influence the balance between WT1 isoforms cause a nearly similar phenotype, known as Frasier syndrome. Nonsense mutations and deletions only lead to WT1 haploinsufficiency and, hence, to less severe gonadal dysgenesis and late-onset nephropathy. WT1 analysis is mandatory in 46,XY gonadal dysgenesis with renal abnormality. Patient: We describe a newborn with 46,XY severe partial gonadal dysgenesis, in whom structural renal anomalies and proteinuria were excluded. Gonadectomy was performed at the age of 1 month and the microscopy was thought to be suggestive for a gonadoblastoma. At the age of 9 months, the patient presented with a bilateral Wilms tumor. Results: We found a heterozygous WT1 whole-gene deletion but no other gene defects. Conclusions: This case description illustrates that a WT1 deletion might be associated with a more severe phenotype than previously thought. It also illustrates that, even in the absence of renal abnormality, it is recommended to test promptly for WT1 defects in 46,XY gonadal dysgenesis.
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                Author and article information

                Journal
                san
                MEDISAN
                MEDISAN
                Centro Provincial de Ciencias Médicas, Santiago de Cuba (Santiago de Cuba, , Cuba )
                1029-3019
                August 2019
                : 23
                : 4
                : 740-747
                Affiliations
                [1] Santiago de Cuba orgnameUniversidad de Ciencias Médicas orgdiv1Hospital Infantil Norte Docente Dr. Juan de la Cruz Martínez Maceira Cuba
                Article
                S1029-30192019000400740 S1029-3019(19)02300400740
                4dd6eb0b-0ea2-46e5-b4cf-d876b7a34b53

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                History
                : 23 January 2019
                : 05 June 2019
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 10, Pages: 8
                Product

                SciELO Cuba

                Categories
                CASOS CLÍNICOS

                disgenesia gonadal,proteinuria,disformismo corporal,síndrome nefrótico,síndrome de Frasier,adolescente,gonadal dysgenesis,corporal dysformism,neprhotic syndrome,Frasier syndrome,adolescent

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