Frasier syndrome ( FS )
نویسندگان
چکیده
Clinical presentation usually occurs between 2nd and 3rd decades; most cases at puberty. Exceptional cases in younger children; youngest example at 6 months of age. Male pseudohermaphroditism; phenotypically female patients presenting with amenorrhea. XY karyotype: Streak (dysgenetic) gonads with gonadoblastoma. Normal external female genitalia; clitoris enlargement and ambiguous genitalia may be present. Small uterus (often with an inactive/atrophic endometrium) and fallopian tubes. Nephrotic syndrome with slowly progressing renal disease, resulting in end-stage renal failure. Focal and segmental glomerulosclerosis; in later stages of renal disease, only chronic, nonspecific findings may be present in kidney biopsy. XX karyotype: patients with less severe phenotype, frequently not clinically identified as FS. Normal and functioning female genitalia. Clinically present only with renal disease.
منابع مشابه
Proteinuria in Frasier syndrome.
INTRODUCTION Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms'tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any medication and FS inevitably progresses to end stage renal failure. CASE OUTLINE We present a patient with FS who had atypical clinical manifestation and unusual beneficial antipr...
متن کاملSertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
OBJECTIVE Frasier syndrome (FS) phenotype in 46,XY patients usually consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma and the development of end stage renal failure usually in the second decade of life. FS is caused by heterozygous de novo intronic splice site mutations of the Wilms' tumor suppressor gene 1 (WT1), although a few cases with typical exonic WT1...
متن کاملGonadal Function in 15 Patients Associated with WT1 Gene Mutations
Denys-Drash syndrome (DDS) and Frasier syndrome (FS) are caused by mutations of the WT1 gene. These disorders are characterized by renal disease, abnormality of male sex differentiation, and Wilms' tumor and gonadoblastoma. There have been few reports on gonadal function in a large series of patients with mutations of the WT1 gene. Here, we evaluated the relation between gonadal function and th...
متن کاملDenys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications
Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumo...
متن کاملGonadal tumor in Frasier syndrome: a review and classification.
Frasier syndrome is a rare inherited disease characterized by steroid-resistant nephrotic syndrome, gonadal tumor, and male pseudohermaphroditism (female external genitalia with sex chromosomes XY), which is based on a splice site mutation of Wilms tumor-suppressor gene 1 (WT1). Several unusual Frasier syndrome cases have been reported in which male pseudohermaphroditism was absent. We reviewed...
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