A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review

Eran Lavi, Mahmud Zighan, Abdulsalam Abu Libdeh, Tehila Klopstock, Ariella Weinberg-Shukron, Pinchas Renbaum, Ephrat Levy-Lahad, David Zangen

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Frasier syndrome (FS), a rare disease caused by inherited or de novo mutation in Wilm's Tumor suppressor gene 1 (WT1), is characterized by slow progressive nephropathy, XY gonadal dysgenesis (XY-DSD), and increased risk for gonadal tumors. Early childhood (1-6 years) nephropathy progresses with age to refractory nephrotic syndrome, and end-stage renal failure in late adolescence, when delayed puberty and/or primary amenorrhea are clinically evident. We report a unique case of FS presenting initially with primary amenorrhea at 16 years, without previous or concomitant renal damage. Only subsequently she developed an extremely late-onset nephropathy. Genetic analysis revealed the IVS9 + 5 G>A mutation in intron 9 of the WT1 gene. This clinical presentation and review of WT1 literature highlights the importance of considering FS in the differential diagnosis of patients with 46,XY disorders of Sexual development, even without nephropathy. Furthermore, the identification WT1 gene mutation prior to evident renal dysfunction indicates an immediate and close surveillance of renal function enabling an optimal and timely medical response.

Original languageAmerican English
Pages (from-to)302-307
Number of pages6
JournalPediatric Endocrinology Reviews
Volume17
Issue number4
DOIs
StatePublished - 1 Aug 2020

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Keywords

  • Childhood hypertension
  • Frasier syndrome
  • Nephropathy
  • WT1
  • XY gonadal dysgenesis
  • XY-DSD

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