Müllerian anomalies.

The reproductive organs in both males and females consist of gonads, internal ductal structures, and external genitalia. Normal sexual differentiation is dependent on the genetic sex determined by the presence or absence of the Y chromosome at fertilization. Testes develop under the influence of the Y chromosome and ovaries develop when no Y chromosome is present. In the absence of testes and their normal hormonal products, sexual differentiation proceeds along the female pathway, resulting in a normal female phenotype. Anatomic gynecologic anomalies occur when there is failure of normal embryologic ductal development. These anomalies include congenital absence of the vagina as well as defects in lateral and vertical fusion of the Müllerian ducts. Treatment of müllerian anomalies begins with the correct identification of the anomaly and an understanding of the embryologic origin. This includes evaluation for other associated anomalies such as renal or skeletal abnormalities. After correct identification, treatment options include nonsurgical as well as surgical intervention. This chapter serves to review the embryology and development of the reproductive system and to describe common genital tract anomalies. Details of surgical or nonsurgical correction of these anomalies are presented.

Microarray expression profiling in adhesion and normal peritoneal tissues.

OBJECTIVE: To identify molecular markers associated with adhesion and normal peritoneal tissue using microarray expression profiling. DESIGN: Comparative study. SETTING: University hospital. PATIENT(S): Five premenopausal women. INTERVENTION(S): Adhesion and normal peritoneal tissue samples were obtained from premenopausal women. Ribonucleic acid was extracted using standard protocols and processed for hybridization to Affymetrix Whole Transcript Human Gene Expression Chips. Microarray data were obtained from five different patients, each with adhesion tissue and normal peritoneal samples. Real-time polymerase chain reaction was performed for confirmation using standard protocols. MAIN OUTCOME MEASURE(S): Gene expression in postoperative adhesion and normal peritoneal tissues. RESULT(S): A total of 1,263 genes were differentially expressed between adhesion and normal tissues. One hundred seventy-three genes were found to be up-regulated and 56 genes were down-regulated in the adhesion tissues compared with normal peritoneal tissues. The genes were sorted into functional categories according to Gene Ontology annotations. Twenty-six up-regulated genes and 11 down-regulated genes were identified with functions potentially relevant to the pathophysiology of postoperative adhesions. We evaluated and confirmed expression of 12 of these specific genes via polymerase chain reaction. CONCLUSION(S): The pathogenesis, natural history, and optimal treatment of postoperative adhesive disease remains unanswered. Microarray analysis of adhesions identified specific genes with increased and decreased expression when compared with normal peritoneum. Knowledge of these genes and ontologic pathways with altered expression provide targets for new therapies to treat patients who have or are at risk for postoperative adhesions.

Secondary amenorrhea attributed to occlusion of microperforate transverse vaginal septum.

OBJECTIVE: To present a case of secondary amenorrhea after occlusion of microperforate transverse vaginal septum. DESIGN: Case report. SETTING: Academic teaching hospital. PATIENT(S): A 19-year-old woman with new onset of irregular menses and pelvic pain, with history of menarche at age 14. INTERVENTION(S): Surgical evaluation and treatment, including laparoscopy, hysteroscopy, and excision of septum, followed by repeat surgery with lysis of adhesions due to agglutination of the area previously excised. MAIN OUTCOME MEASURE(S): Awareness of the possibility of secondary amenorrhea occurring due to septal scarring of a perforate transverse vaginal septum. RESULT(S): Imaging revealed a hematometra and hematocolpos. Examination revealed a transverse vaginal septum. Ultrasound scans and magnetic resonance imaging revealed an enlarged uterus and an endometrial cavity and cervix distended with fluid and debris. Examination under anesthesia revealed a septum approximately 5 mm thick, which was revealed to be benign fibromuscular tissue with chronic nonspecific inflammation. CONCLUSION(S): This case demonstrates the evolution from a microperforate transverse vaginal septum with regular menses for over 4 years to an occluded septum. Although transverse vaginal septa causing amenorrhea are usually diagnosed at menarche, perforate septa have been shown to lead to hypomenorrhea, dysmenorrhea, dyspareunia, infertility, and issues with vaginal childbirth. We present a case in which a perforate transverse vaginal septum led to secondary amenorrhea.

Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants.

OBJECTIVE: Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue. DESIGN: Case report. SETTING: Rural hospital setting. PATIENT(S): Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. Laparoscopy of sister 1 revealed bilateral elongated gonads and remnants of uterine tissue. Laparoscopy of sister 2 demonstrated both gonads, but no uterus was identified. INTERVENTION(S): Sister 1: bilateral gonadectomy and hysterectomy. Sister 2: bilateral gonadectomy. MAIN OUTCOME MEASURE(S): Gonadectomy for cancer prophylaxis, counseling in affected/unaffected family members. RESULT(S): Sister 1: pathology revealed portions of immature testicles and fragments of smooth muscle. Sister 2: pathology reported two testicular and epididymal-like structures with benign Sertoli cell adenomas entirely in testicular parenchyma. CONCLUSION(S): This case demonstrates the presentation and laparoscopic photos of complete androgen insensitivity syndrome discovered in two siblings. Both girls are genotypically male, but differ in the presence of vestigial Müllerian tissue. This case demonstrates that siblings with androgen resistance may express varying amounts of Müllerian tissue.