Intercrural sex leading to an unexpected pregnancy in a woman with a stenotic vagina secondary to congenital adrenal hyperplasia

A 33-year-old woman presented to our Accident and Emergency Department with a 5-day history of vomiting and generalised abdominal pain. As part of her initial investigation, she was found to have a serum sodium of 131 mmol/l. On account of her medical history, a presumptive diagnosis of an Addisonian crisis was made, and she was medically stabilised with intravenous normal saline and intramuscular hydrocortisone. At birth, she had been noted to have ambiguous genitalia, such that she was judged to be of probable male phenotype and required karyotyping. At 3 weeks of age, she was diagnosed with salt-losing, 21-hydroxylase deficiency adrenal hyperplasia. She was commenced on glucocorticoid and mineralocorticoid therapy. At the age of 3 years, she had had clitoral reduction and division of labial adhesions, as well as a diagnostic laparotomy showing normal ovaries and uterus. From age 14 to 18 years, she had three separate introitoplasty and vaginoplasty procedures to form a functional vagina. Unfortunately, over subsequent years, her vagina had restenosed, so that she again had adherent labia, with only a small sinus opening into the introitus. Although she was in a relationship, this did not allow penetrative intercourse. At age 31 years, she had developed a large right-sided benign adrenal mass and had undergone bilateral adrenalectomy. Since then her exogenous steroid requirements had been stable at 30 mg hydrocortisone and 0.05 mg fludrocortisone daily. She remained oligomenorrhoeic, with very scant menses. Taking these factors into account, she had been previously advised that she would never become pregnant. Her probable last menstrual period was 4 weeks prior to the date of presentation. She gave a history of intercrural sex and was found to have a serum beta human chorionic gonadotrophin (bhCG) of 9500 iu/l. With continuing abdominal pain, she was referred to the gynaecology team to exclude an ectopic pregnancy. Transvaginal scan was impossible on account of her severely stenotic vagina. However, a transabdominal scan showed a 10· 7· 10-mm probable gestation sac and a left-sided adnexal mass. About 48 hours after presentation, the serum bhCG level had risen to 15 000 iu/l, a 57% rise. She developed pronounced right-sided iliac fossa pain but without peritonism. About 72 hours after presentation, a second transabdominal scan was performed, showing a gestational sac with a yolk sac. The ultrasound appearances were suggestive of an early intrauterine pregnancy of approximately 5 weeks of gestation. In line with previous reports,1 her steroid requirements increased during early pregnancy, up to 20 mg hydrocortisone twice daily and 0.15 mg fludrocortisone. She was re-admitted at 12 weeks of gestation with further vomiting, which again responded to intramuscular hydrocortisone. Another scan was performed at 12 weeks and then at 4-weekly intervals from 22 weeks. No fetal anomaly was detected on any of these scans. Vaginal delivery was anatomically impossible, so an elective caesarean section was planned for the 38th week of gestation, with additional steroid cover. She delivered a 2.6-kg healthy female infant, with normal external genitalia. After careful counselling, she opted for sterilisation at the time of operation.