17-alpha-hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, presenting in females with hypogonadism, infertility, and hypertension. Glucocorticoid treatment normalises the endocrine milieu of inadequate oestrogen production, hypocortisolemia, and aldosterone excess.
Oestrogen supplementation encourages follicular maturation, enabling oocyte harvesting, and embryo transfer in vitro fertilisation (ET-IVF). We present the pregnancy outcomes of a patient with 17-OHD, conceiving via autologous oocyte ET-IVF.
A 31-year-old nulliparous female, with a history of 17-OHD (homozygous mutation in c.160_162delTTC of the CYP17A1 gene) presented for pre-conception counselling, while on hydrocortisone 5mg mane and dexamethasone 0.75mg nocte. Dexamethasone was changed to prednisone 5mg at night, and she conceived following her second ET-IVF attempt.
During pregnancy, the patient’s glucocorticoid regimen was increased due to symptoms of adrenal insufficiency. By late second trimester, her regimen consisted of hydrocortisone 15mg mane, prednisone 7.5mg nocte, and hydrocortisone 5mg midi as needed. Aspirin 100mg was commenced for preeclampsia prophylaxis, and adequate dietary calcium was maintained.
The patient had non-invasive prenatal testing, confirming a female fetus. Fetal ultrasound at 32 weeks’ showed new slowing of growth. She became newly hypertensive at 35 weeks’ gestation, without features of preeclampsia, and spironolactone 25 mg was commenced with good effect.
The patient was induced at 38 weeks’ gestation. Her hypertension control deteriorated during induction, with new LFT derangement and proteinuria, now meeting criteria for preeclampsia. Stress dose hydrocortisone was administered in labour. She delivered a healthy girl (weight 2450g) via ventouse-assisted vaginal delivery. She developed a 1300mL post-partum haemorrhage requiring return to theatre. The patient returned to her pre-conception steroid regime within 48 hours of delivery and has since ceased spironolactone.
To date, eleven successful live births have been reported in 9 women with 17-OHD using autologous oocyte ET-IVF(1). Two pregnancies were complicated by a hypertensive disorder of pregnancy, necessitating delivery at 29+2 and 30+4 weeks gestation(2, 3). Six live births have been delivered after 37 weeks(1). The oldest patient with 17-OHD and successful live pregnancy, involved a 43-year-old with chronic hypertension, treated with labetalol during the pregnancy and twice daily prednisolone, who delivered at 37 weeks(4).
To date, spironolactone has not been used during pregnancy for women with 17-OHD. Spironolactone was our anti-hypertensive of choice given the fetus was female, organogenesis was complete, and its physiological effect as a mineralocorticoid receptor antagonist. This case report compares the treatment and outcomes in our patient with 17-OHD to other published reports in the literature.