RESUMEN
BACKGROUND: Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma. CASE REPORT: At the age of 3 years, the patient developed nephrotic syndrome. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis. At the age of 17 years, the patient presented primary amenorrhea and was referred to our department. Physical examination was consistent with Tanner 1 development and external genitalia were female phenotype. Speculum examination showed uterine cervix and uterine body and bilateral ovaries were not palpable on pelvic examination. Multi-sliced computed tomography of abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at pelvic wall and hypoplastic uterus. Serum testing revealed primary hypogonadism pattern, elevated follicle-stimulating hormone and luteinizing hormone with low concentrations of estradiol and testosterone. The patient underwent genetic counseling with her parents. Chromosomal status was 46XY karyotype and DNA sequencing confirmed FS due to a heterozygous WT1 mutation (IVS9+5G>A). Elective laparoscopic bilateral salpingo-oophorectomy was performed to avoid increased risk for gonadoblastoma. Pathological examination revealed gonadoblastoma in the right gonad. CONCLUSION: Although a rare disease, the diagnosis of FS should be considered in the case of primary amenorrhea with nephropathy. Prophylatic gonadectomy is recommended due to the high risk of gonadoblastoma in the dysgenetic gonad.
Asunto(s)
Síndrome de Frasier/cirugía , Gonadoblastoma/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Proteínas WT1/genética , Adolescente , Femenino , Síndrome de Frasier/complicaciones , Síndrome de Frasier/genética , Disgenesia Gonadal 46 XY , Humanos , Mutación , Ovariectomía , Salpingectomía , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: The absence of a normal functioning vagina can have a profound impact on women's quality of life and psychological well being. Frasier syndrome is a rare autosomal recessive disorder which presents with male pseudohermaphroditism with gonadal dysgenesis, renal failure in early adulthood and increased risk of developing gonadoblastoma. Kidney transplant recipients are reported to have a high complication rate after colorectal surgery, most probably resulting from immunosuppressive therapy. CASE: A 25-year-old female kidney transplant recipient with Frasier syndrome consulted our department to discuss the possibilities of surgically constructing a functional vagina. She successfully underwent a total laparoscopic colocolpopoiesis without any complications. A sigmoid segment of 16 cm long was isolated laparoscopically and transferred caudally in a dissected pouch between bladder and rectum on its vascular pedicle. There was no short-term morbidity and no complications up to 3 years postoperatively. She experienced no neovaginal symptoms and was able to engage in neovaginal penetration by means of vibrator or neovaginal dilatator. CONCLUSIONS: The positive results in this patient lead us to recommend laparoscopic colocolpopoiesis in kidney transplant patients who are seeking vaginoplasty. We advocate considering a total laparoscopic approach whenever rectosigmoid colocolpopoiesis is indicated, even after a kidney transplantation.
Asunto(s)
Órganos Artificiales , Colon Sigmoide/trasplante , Síndrome de Frasier/cirugía , Vagina/cirugía , Adulto , Femenino , Humanos , Trasplante de Riñón , Laparoscopía/métodos , Resultado del TratamientoRESUMEN
INTRODUCTION: Post-transplant lymphoproliferative disorder (PTLD) is a heterogeneous group of diseases, characterized by abnormal lymphoid proliferation following transplantation. It is a disease of the immunosuppressed state, and its occurrence is mostly associated with the use of T-cell depleting agents, and also intensification of immunosuppressive regimens. In the majority of cases, PTLD is a consequence of Epstein-Barr virus (EBV) infection and is a B-cell hyperplasia with CD-20 positive lymphocytes. The 2008 World Health Organization classification for lymphoid malignancies divides PTLD into four major categories: early lesions, polymorphic PTLD, monomorphic PTLD and Hodgkin PTLD. The treatment and prognosis depend on histology. The cornerstone of PTLD therapy includes reduction/withdrawal of immunosuppression, monoclonal anti CD-20 antibody (rituximab) and chemotherapy. OUTLINE OF CASES: We reported here our experiences with three patients, two girls aged 7.5 and 15 and a 16-year old boy. They had different organ involvement: brain, combined spleen-liver and intestines, respectively. Even though EBV was a trigger of lymphoid proliferation as it was confirmed by histopathology or in cerebrospinal fluid, qualitative EBV-PCR was positive only in one patient at disease presentation. Reduction of immunosuppression therapy was applied in treatment of all three patients, while two of them received rituximab and ganciclovir. They had an excellent outcome besides many difficulties in diagnosis and management of disease. CONCLUSION: Qualitative EBV-PCR is not useful marker in pediatric transplant recipients. Our suggestion is that patients with the risk factors like T-cell depleting agents, immunosuppressant protocol or increasing immunosuppressive therapy and EBV miss-match with donor must be more accurately monitored with quantitative EBV PCR.
Asunto(s)
Anticuerpos Monoclonales de Origen Murino/uso terapéutico , Antineoplásicos/uso terapéutico , Infecciones por Virus de Epstein-Barr/tratamiento farmacológico , Inmunosupresores/uso terapéutico , Fallo Renal Crónico/cirugía , Trasplante de Riñón , Trastornos Linfoproliferativos/tratamiento farmacológico , Complicaciones Posoperatorias/tratamiento farmacológico , Adolescente , Niño , Femenino , Síndrome de Frasier/cirugía , Humanos , Masculino , Síndrome Nefrótico/cirugía , Enfermedades Renales Poliquísticas/cirugía , RituximabRESUMEN
The authors present a case of Frasier syndrome in a 17-year-old girl with nephrotic syndrome and male pseudohermaphroditism. Due to the existing risk of developing tumors in dysgenetic gonads, the patient was admitted to the clinic for prophylactic gonadectomy The operation was then postponed as a result of rapid progression to end-stage renal failure, and the patient was placed on hemodialysis. During subsequent laparoscopy both ovaries and dysgenetic gonads were resected. Histopathological examination revealed the presence of both seminal ducts and epididymis. Early prophylactic resection of dysgenetic gonads, such as was undertaken in this patient, is indicated in children with Frasier syndrome to prevent the development of germ cell tumors.
Asunto(s)
Síndrome de Frasier/diagnóstico , Síndrome de Frasier/cirugía , Gónadas/cirugía , Adolescente , Femenino , Humanos , Laparoscopía/métodos , Resultado del TratamientoRESUMEN
Frasier syndrome (FS) is characterized by male pseudohermaphroditism, slowly progressing nephropathy, and frequent development of gonadoblastoma. These patients are, however, often diagnosed when evaluated for primary amenorrhea. We report the case of FS in a pre-menarchal girl at the age of 6 years. Ultrasound examinations were performed and were inconclusive as to the presence or size of the gonads. Diagnostic laparoscopy was performed and the presence of bilateral streak gonads was documented and a bilateral salpingo-oophorectomy was performed. The postoperative course was uneventful. Histological examination of the streak gonads confirmed the presence of gonadoblastoma. To our knowledge, this is the first case in the literature of a pre-menarchal patient diagnosed with FS and a laparoscopic bilateral gonadoblastoma resection. Laparoscopic aspects regarding safe streak gonad removal in the pediatric population have been elaborated.
Asunto(s)
Síndrome de Frasier/diagnóstico , Gonadoblastoma/cirugía , Neoplasias Ováricas/cirugía , Niño , Trompas Uterinas/cirugía , Femenino , Síndrome de Frasier/cirugía , Humanos , Laparoscopía , OvariectomíaRESUMEN
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 was made and she underwent laparoscopic gonadectomy. This case illustrates that, while delayed puberty is common in children with chronic illness, clinicians should be particularly aware of the possibility of Frasier syndrome in those with progressive glomerulopathy and delayed puberty. DNA analysis is a useful means of confirming the diagnosis.