Woman with recurrent Cushing’s disease has 2 successful pregnancies
Case is rare as excess cortisol can cause menstrual irregularities, infertility
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A woman with persistent Cushing’s disease experienced two back-to-back pregnancies without significant problems for the mother or baby, a case study reported.
“There are a limited number of cases of Cushing’s [disease] in pregnancy, therefore the best possible treatment is difficult to determine and should be individualised to the patient,” researchers wrote in the case study, “A case of recurrent Cushing’s disease with optimised perinatal outcomes,” published in Endocrinology, Diabetes & Metabolism Case Reports.
Diagnosing Cushing’s during pregnancy is difficult
In Cushing’s disease, a tumor in the brain’s pituitary gland releases abnormally high levels of adrenocorticotropic hormone (ACTH), triggering the adrenal glands, which sit atop the kidneys, to produce too much cortisol. Over time, excess cortisol in the bloodstream gives rise to Cushing’s symptoms.
Excess cortisol can also disrupt reproductive hormones, causing menstrual irregularities and infertility. Diagnosing Cushing’s during pregnancy is difficult because regular pregnancy-related hormonal changes, including a rise in cortisol levels, can drive symptoms that mimic Cushing’s.
Although treating Cushing’s during pregnancy can improve outcomes for both mother and baby, the benefits must be balanced against the risks of surgical or medical interventions.
In this case, a woman was diagnosed with Cushing’s disease at age 20 years. As a result, she underwent a transsphenoidal pituitary adenectomy, the first-line treatment for Cushing’s disease, whereby the pituitary tumor was surgically removed. Over a five-year follow-up, her cortisol levels remained within the normal range, with no signs of a pituitary lesion on MRI.
At the age of 30, she began to gain weight and exhibited signs of a so-called moon face, a hallmark sign of Cushing’s characterized by a puffy and rounded appearance. At the same time, she spontaneously conceived and was confirmed to be at six weeks of gestation. Pregnancy also triggered gestational diabetes and high blood pressure, for which she received appropriate medications.
Woman with recurrent Cushing’s disease delivers 2 healthy babies
During ongoing care for a high-risk pregnancy, she showed other signs of Cushing’s, including purple stretch marks and a prominent buffalo hump, an accumulation of fat behind the neck and between the shoulder blades. Urine and salivary tests showed elevated cortisol levels, and an MRI also revealed a potential pituitary lesion. At 14 weeks, the cortisol tests remained the same.
The team noted that the lack of pregnancy-specific reference ranges for these tests made a definitive diagnosis difficult based solely on biochemistry. As such, the patient underwent petrosal sinus sampling, an invasive diagnostic test that measures ACTH levels in the veins draining the pituitary gland. High ACTH levels were confirmed, consistent with Cushing’s disease.
At 17 weeks of gestation, she underwent a second pituitary tumor surgery, which was uneventful and reduced cortisol levels after three days. An examination of tumor tissue under a microscope confirmed the pituitary tumor with positive ACTH staining.
At about 36 weeks of gestation, or slightly over eight months, she delivered a healthy live male infant via normal vaginal delivery. Her diabetes and high blood pressure resolved after delivery, and related medications were stopped. At five weeks postpartum, cortisol levels remained within normal limits, with no signs of a pituitary tumor on repeated MRI scans.
Our case demonstrates a rare case of [Cushing’s disease] in pregnancy with no significant adverse perinatal outcomes for mother or baby.
By six months postpartum, however, a dexamethasone suppression test showed incomplete cortisol suppression, indicating residual Cushing’s disease. In this test, patients received dexamethasone, a medication that mimics cortisol and is expected to induce cortisol suppression in people without Cushing’s. She was also briefly treated for high blood pressure.
Although Cushing’s disease persisted, her overall cortisol levels remained low, and MRI scans with contrast agents did not reveal an apparent pituitary lesion. The woman then rvealed that wished to pursue a second pregnancy.
She became pregnant again 11 months after her first delivery. Glucose tolerance tests were normal, her blood pressure remained controlled with medication, and she delivered a healthy baby at 38 weeks.
While postpartum MRI again showed no pituitary mass, repeat urinary cortisol levels indicated persistent Cushing’s disease. Symptoms included central weight gain, abnormal liver function tests, elevated HbA1c (blood sugar), and abnormally high levels of insulin in the blood under fasting conditions.
She began Isturisa (osilodrostat), an approved oral Cushing’s medication, and received information on its side effects and when to seek medical attention.
“Our case demonstrates a rare case of [Cushing’s disease] in pregnancy with no significant adverse perinatal outcomes for mother or baby,” the researchers wrote. “Ongoing endocrinology surveillance is essential to monitor for recurrent [Cushing’s disease].”
