Phenotypic variations in X chromosome mutations: Two case reports.

Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS. Patient 1 presented at age 17 with primary amenorrhea, cognitive delay and tall stature. Patient 2 presented at age 16 with primary amenorrhea, normal intelligence and average stature. Patient 1's karyotype revealed isodicentric X chromosome [46 X, idic(X)(q21)]. Patient 2's karyotype revealed [46 X,del(X)(q13.3)]. The stature of these patients was not affected. Estrogen therapy was required to provide secondary sexual changes promote bone health. Advances in technology and reproductive health provide an opportunity to make more specific recommendations for patients previously mistakenly diagnosed with TS.

Cervical cancer complicating pelvic organ prolapse, and use of a pessary to restore anatomy for optimal radiation: A case report.

Cervical cancer is the most common gynecologic malignancy worldwide and the third most common gynecologic cancer in the USA. Improved screening methods such as liquid-based cytology accompanied by Human Papilloma Virus (HPV) co-testing have contributed to a declining incidence of cervical cancer. There are approximately 13,000 new cases per year in the United States, accounting for 4200 deaths (Siegel et al., 2011). Pelvic organ prolapse increases with age, obesity and parity. In the absence of bothersome urinary, gastrointestinal or pressure symptoms, patients may choose conservative management options. The index patient was a 72 year old woman with a known history of pelvic organ prolapse who had been managed by her primary physician for 7 years until she developed new-onset vaginal bleeding. One month following worsening prolapse and increased vaginal bleeding she presented to the emergency department and was evaluated. On physical examination the cervix appeared as an 8 cm exophytic fungating mass extruding from the vagina and bled easily from areas of apparent necrosis. Multiple biopsies confirmed an invasive squamous cell carcinoma. The patient underwent the insertion of a Gelhorn pessary and perineorrhaphy to reduce her procidentia, cystocele and enterocele. Chemotherapy with Cisplatin and radiation therapy in the form of brachytherapy and external beam radiation therapy were then administered with curative intent. Cervical cancer complicating a uterine procidentia in an elderly patient is a rare occurrence in the United States and requires a multidisciplinary approach involving a urogynecologist, a gynecologic oncologist and a radiation oncologist. Nonetheless, in carefully selected patients, the outcome can be successful.

Urinary ascites in late onset of bladder injury post laparoscopic hysterectomy.

Urinary tract injuries are unfortunate complications of pelvic surgery. With the increasing popularity of minimally invasive surgery, a thorough understanding of electrosurgical instrumentation and their thermal spread is important to reduce patient injuries. The index patient was a 50 year old woman who underwent a supracervical hysterectomy 5 years prior to her presentation with pelvic pain and dysuria. When her symptoms failed to improve despite antibiotic and analgesic therapy, an abdominal CT scan revealed an ovarian cyst and ascites. A subsequent laparoscopy disclosed the presence of a bladder fistula and a diagnosis of urinary ascites was made. The patient then underwent a subsequent bladder fistula repair. Vesicoperitoneal fistulae (VPF) are rare and should be included in the differential diagnosis of the patient with acute onset ascites following gynecologic surgery. This case is the first case report of a VPF occurring 5 years following surgery.

Post-Ablation Endometrial Carcinoma (PAEC) Following Radiofrequency Endometrial Ablation: A Case Report and Its Implications for Management of Endometrial Ablation Failures.

Endometrial ablation (EA) has become one of the most commonly performed gynecologic procedures in the United States and other developed countries. Global endometrial ablation (GEA) devices have supplanted resectoscopic ablation primarily because they have brought with them technical simplicity and unprecedented safety. These devices, all of which received FDA approval between 1997 and 2001, are typically used to treat abnormal uterine bleeding (AUB) in premenopausal women. Several million women in the US who have undergone a previous EA procedure are about to enter the risk pool for the development of endometrial cancer (EC). Ours is the 18th reported case of post-ablation endometrial carcinoma (PAEC) in the English literature. This case underscores the diagnostic challenges faced in evaluating women with a history of a previous EA who cannot be properly evaluated with conventional techniques such as endometrial biopsy and sonohysterography.