Non-classical congenital adrenal Hyperplasia with accompanying congenital anomalies: Vaginal atresia, left kidney agenesis, and urogenital malformations

@#A 16-year-old male-looking patient presented at the emergency room for severe abdominal pain. Physical examination revealed acute abdomen, ambiguous genitalia, empty rectal vault with watery discharge and right lower quadrant palpable mass. Ultrasound showed a uterus and right adnexal mass. General surgery evaluated urethral patency and noted presence of recto-urethral fistula. Surgical exploration, right salpingo-oophorectomy and suprapubic cystostomy were done. Immediate referral to a reproductive endocrinologist was done postoperatively. Retrograde urethrogram and cystogram revealed neurogenic bladder with fistula formation. On follow up, whole abdomen MRI revealed thickened endometrium with fluid levels, tortuous left fallopian tube, multiloculated left adnexal mass and left renal agenesis. Serum levels of 17-hydroxyprogesterone and cortisol were noted to be elevated and karyotyping revealed 46 XX. Patient then underwent psychiatric evaluation and assessment. Patient was readmitted for urology and pediatric surgery diagnostic work up. However, regardless of the findings, patient decided not to undergo further surgeries and opted to be female.

Sindrome de zinner. a propósito de un caso clínico / Zinner syndrome. report of a clinical case

Introducción: El Sindrome de Zinner se caracteriza por dilatación quística unilateral de la vesícula seminal y atrofia o agenesia del riñón ipsilateral, siendo producto de una alteración congénita de los conductos de Wolff. Objetivos: Presentación de caso clínico y revisión bibliográfica. Reporte de caso: Joven de 18 años que consulta por dolor testicular intermitente, sordo y mal localizado de un año de duración, que se acompaña de una disminución del volumen del líquido espermático eyaculado. Se procede a realizar ecografía abdominal, la cual informa agenesia renal derecha y vesícula seminal derecha. Con los hallazgos clínicos e imagenológicos se diagnóstica sindrome de Zinner. Discusión: La mayoría de los pacientes con este grupo de anomalías del conducto mesonéfrico son asintomáticos hasta la tercera o cuarta década de la vida. La ecografía es el método diagnóstico inicial por su accesibilidad y sirve para descartar otras causas de dolor pélvico y demostrar la agenesia renal, así como la imagen quística de la pelvis. La resonancia magnética es el método de elección para evaluar malformaciones del conducto mesonéfrico.

Introduction: Zinner syndrome is characterized by unilateral cystic dilatation of the seminal vesicle and atrophy or agenesis of ipsilateral kidney, being the product of a congenital abnormality of the Wolffian ducts. Objectives: Presentation of a case and literature review. Case report: 18 year old who complains of intermittent testicular pain, poorly localized, associated with ejaculate seminal fluid volume reduction. We performed an abdominal ultrasound, which reports right renal and right seminal vesicle agenesis. With clinical and image findings, Zinner syndrome is diagnosed .Discussion: Most patients with this group of mesonephric duct abnormalities are asymptomatic until the third or fourth decade of life. Ultrasound is the initial diagnostic method for its accessibility and it serves to rule out other causes of pelvic pain. It proves renal agenesis and cystic image on the pelvis. MRI is the best method to assess mesonephric ducts abnormalities.

Primary Mucinous Adenocarcinoma of a Seminal Vesicle Cyst Associated with Ectopic Ureter and Ipsilateral Renal Agenesis: a Case Report

Primary adenocarcinoma of the seminal vesicles is a rare neoplasm. Congenital seminal vesicle cysts are commonly associated with unilateral renal agenesis or dysgenesis. To the best of our knowledge, mucinous adenocarcinoma of the seminal vesicle cyst that's associated with an ectopic ureter opening into the seminal vesicle and ipsilateral renal agenesis has not been described in the radiological literature. We report here on the radiological findings of a primary adenocarcinoma of a seminal vesicle cyst in this condition.