Ovarian Torsion in an Adolescent Female With Long-Standing Cystic Fibrosis

Abstract

Background: Cystic fibrosis (CF), which was once considered a fatal childhood illness, is now manageable with advances in treatment. Progressive damage to the lung and intestinal systems are caused by the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The most commonly known gynecologic complications of cystic fibrosis involve infertility, namely amenorrhea, ovarian dysfunction and chronic anovulation. The majority of these endocrine disorders affect reproductive-aged females. Recent research suggests CFTR is expressed in the fallopian tubes, cervix and endometrium. Females with cystic fibrosis have been noted to have multicystic ovaries, much like those observed in Polycystic Ovarian Syndrome (PCOS). Reproductive tract effects of the CFTR mutation are believed to be present as early as the initiation of puberty, providing a mechanism for ovarian cyst formation. This case will demonstrate the importance of recognizing ovarian pathology as a cause for acute onset abdominal pain in the adolescent female CF patient. Case: A 14-year-old female presented to the hospital with acute lower abdominal pain, nausea and vomiting. Her medical history was significant for pancreatic insufficiency, cirrhosis, chronic constipation, multiple previous small bowel resections and an active pseudomonas aeruginosa and staph aureus pulmonary infection. An extensive work up failed to show a primary gastrointestinal cause of the pain. A pelvic ultrasound showed an 8.5cm cystic lesion in the left adnexa with normal vascular flow to the ovary. A pelvic magnetic resonance study showed a 9.6cm thick walled cystic lesion suggestive of a dermoid cyst with intermittent ovarian torsion. Gynecology was consulted and urgent exploratory surgery revealed a necrotic left ovary and adherent tube. The ovarian pathology was significant for a mature teratoma. Comments: Abdominal pain in patients with cystic fibrosis presents a diagnostic challenge because primary gastrointestinal conditions are so prevalent. This case report highlights the importance of considering ovarian pathology as a potential cause of acute or persistent abdominal pain in adolescent females patients with cystic fibrosis. Timely diagnosis could lead to preservation of ovarian tissue in a population that faces a high prevalence of infertility as they reach their reproductive years. Further scientific investigation into the association of the CFTR gene mutation and ovarian pathology is warranted to guide clinical practice for pediatric gynecologists who care for adolescent female CF patients.