ABSTRACT
OBJECTIVE: The 45,X/46,XY and 45,X/47,XYY group of patients includes some of those previously diagnosed with 'mixed gonadal dysgenesis'. Our aim was to establish the clinical and gonadal spectrum, and early surgical management, of patients with chromosomal mosaicism presenting with genital anomalies. PATIENTS AND METHODS: We performed a retrospective review of patients with 45,X/46,XY or 45,X/47,XYY mosaicism presenting with genital ambiguity between 1988 and 2009. At least one gonadal biopsy or gonadectomy specimen was available for each patient. Gonadal histology was re-evaluated by a paediatric pathologist. RESULTS: Of 31 patients with 45,X/46,XY (n = 28) or 45,X/47,XYY (n = 3) mosaicism and genital anomalies, 19 (61%) were raised male. Histology of 46 gonads was available from patients who had undergone a gonadectomy or gonadal biopsy, at a median age of 9.5 months. 18 gonads were palpable at presentation, including 5 (28%) histologically unremarkable testes, 2 streak gonads, and 1 dysgenetic gonad with distinct areas of testicular and ovarian stroma but no oocytes. All intra-abdominal gonads were found to be dysgenetic testes (of which 2 were noted to have pre-malignant changes) or streaks, apart from 1 histologically unremarkable testis. 15 (48%) patients had other anomalies, most commonly cardiac and renal; 4 (13%) had a Turner phenotype. CONCLUSION: The anatomy and gonadal histology of 45,X/46,XY and 45,X/47,XYY individuals with genital ambiguity do not conform to a set pattern, and hence management of each patient should be individualized according to detailed anatomical and histological assessment.
Subject(s)
Gonadal Dysgenesis, 46,XY/pathology , Gonadal Dysgenesis, Mixed/genetics , Gonadal Dysgenesis, Mixed/pathology , Sex Chromosome Disorders/genetics , Sex Chromosome Disorders/pathology , XYY Karyotype/genetics , XYY Karyotype/pathology , Child, Preschool , Databases, Factual , Disorders of Sex Development/genetics , Disorders of Sex Development/pathology , Female , Gonadal Dysgenesis, 46,XY/genetics , Humans , Infant , Infant, Newborn , Male , Mosaicism , Phenotype , Retrospective Studies , Turner Syndrome/genetics , Turner Syndrome/pathologyABSTRACT
Cystic lymphangiomas are rare tumours that can mimic various causes of acute abdomen including appendicitis. They exhibit variations in two characteristics on presentation: they can arise from a wide range of organs including various intra-abdominal structures and they can have a wide variation in size on presentation. We report a case of a gigantic cystic lymphangioma presenting as an acute abdomen closely mimicking acute appendicitis and we conduct a review of the relevant literature.
Subject(s)
Appendicitis/diagnosis , Lymphangioma, Cystic/diagnosis , Retroperitoneal Neoplasms/diagnosis , Abdomen, Acute/etiology , Diagnosis, Differential , Female , Humans , Lymphangioma, Cystic/surgery , Retroperitoneal Neoplasms/surgery , Young AdultABSTRACT
Postoperative herniation of the stomach into potential spaces is a rare but serious complication of Nissen fundoplication. We report a 55-year-old female who presented with persistent vomiting shortly following laparoscopic Nissen fundoplication. At laparotomy, the anterior wall of the stomach was noted to be herniating into a congenital space behind the diaphragm. Anterior gastropexy was performed following the reduction of the herniating gastric segment. A high index of suspicion followed by aggressive and timely intervention is necessary to diagnose and manage postoperative gastric herniation and reduce the subsequent morbidity and mortality.
