Hypergonadotropic hypogonadism and renal failure due to WT1 mutation.

Frasier syndrome: a rare cause of delayed puberty.

We report on a post-renal transplant patient who presented with delayed pubertal development at the age of 15 years. She had a normal female phenotype. Blood analysis showed hypergonadotropic hypogonadism. Her karyotype was 46,XY. DNA analysis showed a heterozygous mutation in the WT1 gene (C to T mutation at position +4 of the splice donor site within intron 9). A diagnosis of Frasier syndrome...

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma (GB) as precursor lesion. In 10-15% of 46,XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residin...

Clinical and genetic findings of five patients with WT1-related disorders.

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 ...

Pathogenesis and Causes of Premature Ovarian Failure:An Update

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.

OBJECTIVE To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. DESIGN Case report. SETTING University medical center. PATIENT(S) A 28-year-old woman. INTERVENTION(S) Clinical evaluation, hormone assays, gene mutation research. MAIN OUTCOME MEASURE(S) FOXL2 gene mutation. RESULT(...