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Clinical and Genetic Findings of Five Patients with WT1-Related Disorders
- Source :
- Mara Guaragna, ResearcherID, Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008, Arquivos Brasileiros de Endocrinologia & Metabologia, Sociedade Brasileira de Endocrinologia e Metabologia (SBEM), instacron:SBEM
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Abstract
- AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. RESULTS: Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2 and 3: adolescents with chronic renal disease, primary amenorrhea and hypergonadotrophic hypogonadism; patient 2 had a gonadoblastoma. The heterozygous IVS9+4, C>T mutation, compatible with Frasier syndrome was detected. Patient 4: 9-year-old boy with aniridia, genital ambiguity, dysmorphisms and mental deficiency; a heterozygous 11p deletion, compatible with WAGR syndrome was detected. Patient 5: 2 months old, same diagnosis of patient 4; he developed WT at the age of 8 months. CONCLUSIONS: Constitutional abnormalities of WT1 cause gonadal and renal anomalies and predisposition to neoplasia and must be investigated in patients with ambiguous genitalia, chronic renal disease and(or) Wilms tumors; primary amenorrhea with chronic renal disease; and aniridia, genital ambiguity and dysmorphisms.
- Subjects :
- Male
Heterozygote
Denys–Drash syndrome
Pathology
medicine.medical_specialty
Pediatrics
Genes, Wilms Tumor
Adolescent
Endocrinology, Diabetes and Metabolism
WAGR syndrome
Gonadoblastoma
Sex differentiation
urologic and male genital diseases
Fatal Outcome
medicine
Humans
WT1 gene
Genitalia
Renal Insufficiency, Chronic
Child
WT1 Proteins
Amenorrhea
Denys-Drash syndrome
Sexual differentiation
business.industry
Infant, Newborn
Infant
Wilms' tumor
Heterozygote advantage
General Medicine
medicine.disease
Frasier Syndrome
Kidney Neoplasms
Frasier syndrome
Phenotype
Aniridia
Female
business
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Mara Guaragna, ResearcherID, Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008, Arquivos Brasileiros de Endocrinologia & Metabologia, Sociedade Brasileira de Endocrinologia e Metabologia (SBEM), instacron:SBEM
- Accession number :
- edsair.doi.dedup.....6a664582a29bde90a82da82360d3aff1