Absent pubertal development in a child with chronic renal failure: The case of Frasier syndrome

Nephrology Dialysis Transplantation

Volumn 15, Issue 10, 2000, Pages 1688-1690

  Bönte, Anselm ^a   Schröder, Willibald ^b   Denamur, Erick ^c   Querfeld, Uwe ^a,d  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Denys Drash syndrome; Frasier syndrome; Gonadoblastoma; Pubertal development; WT1 mutations

Indexed keywords

CAPTOPRIL; CARVEDILOL; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; ESTROGEN; GESTAGEN; INSULIN; NITRENDIPINE; QUINAPRIL; STEROID;

ARTICLE; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHROMOSOME ANALYSIS; CHRONIC KIDNEY FAILURE; DISEASE COURSE; ECHOGRAPHY; FEMALE; FOCAL GLOMERULOSCLEROSIS; FOLLOW UP; FRASIER SYNDROME; GENE MUTATION; GONADAL DYSGENESIS; GONADECTOMY; GONADOBLASTOMA; GROWTH DISORDER; HORMONE SUBSTITUTION; HUMAN; HYPERTENSION; INSULIN DEPENDENT DIABETES MELLITUS; KARYOTYPE; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FUNCTION; LAPAROTOMY; NEPHROTIC SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; PUBERTY; TUMOR SUPPRESSOR GENE;

EID: 0033809910     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/15.10.1688     Document Type: Article

References (13)

1. Hypothalamo-pituitary-gonadal axis in children with chronic renal failure
2. Chronic renal failure and XY gonadal dysgenesis: 'Frasier' syndrome-a commentary on reported cases
3. Evaluation of delayed puberty in the female adolescent with chronic renal failure
4. Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins
5. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
6. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
7. Donor splice-site mutations in WT1 are responsible for Frasier syndrome
8. XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation
9. Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome
10. Distinct molecular origins for Denys-Drash and Frasier syndromes
11. Identification of constitutional WT1 mutations in patients with isolated diffuse mesangial sclerosis (IDMS) and analysis of genotype-phenotype correlations using a computerized mutation database
12. Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female
13. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases