Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome

AbstractComplete androgen insensitivity syndrome (CAIS) is an X-linked, recessive disorder caused by mutations of the androgen receptor (AR), in which genetic males (46,XY) show female external genitalia. Individuals with CAIS have mostly normal external genitalia, lack of Müllerian structures (Fallopian tubes, uterus, proximal portion of the vagina) and undescended testes (intra-abdominal, inguinal, or labial). Management and diagnosis of CAIS should be undertaken by a multidisciplinary team of experts in sexual development disorders. Gonadectomy represents a standard therapeutic choice to prevent testicular malignancy in the prepubertal period, with subsequent hormonal replacement therapy, or in late adolescence, after completion of pubertal development. Imaging examinations play a pivotal role in the diagnosis, assessment, and detection of the gonads before surgical treatments. Magnetic resonance imaging (MRI) is the gold standard to diagnose and locate the gonads, and to plan laparoscopic gonadectomy and gonadic surveillance, in particular in the increasingly large number of patients who decide to delay or ultimately not to undergo gonadectomy. We present a case of a 14-year-old female with primary amenorrhea

Rapid long-lasting biochemical and radiological response to sorafenib in a case of advanced hepatocellular carcinoma

The multikinase inhibitor sorafenib has demonstrated an overall survival benefit in phase III hepatocellular carcinoma (HCC) trials and has become the new standard of care for advanced stages of this disease. However, in clinical practice, the vast majority of patients obtain disease stabilization and occasionally tumor shrinkage. Furthermore, the appropriate timing of sorafenib therapy initiation, in order to maximize its clinical activity, remains under debate. We report a case of 4-year sorafenib treatment in a patient with an advanced hepatitis C virus (HCV)-related HCC with extensive infiltration of the inferior vena cava. Sorafenib treatment induced a rapid complete biochemical response and a long-term favorable outcome. Additionally, no major toxicities or detrimental effects on quality of life were observed. Thus, it is likely that a subgroup of human HCC may be highly sensitive to sorafenib; new molecular determinants are required to select those patients who may benefit from this therapy. Furthermore, a prompt initiation of treatment when the hepatic function is not compromised is a prerequisite for maximizing the clinical activity of sorafenib

An unusual sigmoid phytobezoar in a patient with a transplanted kidney: A case report

Bezoars are masses formed by the concretion of stomach contents or debris within the gastrointestinal tract. Bezoars are rare and account for only 0.4–4% of all cases of gastrointestinal obstruction and mainly occur in the stomach or small intestine. Intestinal obstruction caused by colonic bezoars is extremely rare. A 39-year-old man with a transplanted kidney came to the hospital because of abdominal pain, constipation, and distension. We performed an abdominal computed tomography scan and found an ovoid intraluminal mass with a mottled gas pattern in the distal sigmoid colon. Subsequently, the patient underwent laparotomic surgery and removal of the bezoar. We report a rare case of large bowel obstruction due to colonic phytobezoar, which was confirmed intraoperatively