Persistent Fatigue After Pregnancy: A Case Report

Background: Pregnancy is characterized by physiologic immunosuppression and the postpartum period is often associated with rebound autoimmunity leading to unmasking of latent autoimmune disorders. Clinical Case: A thirty-one-year-old Caucasian female presented with generalized fatigue, myalgias and arthralgias that started three months after the birth of her first child. She was seen at a local hospital on multiple occasions and was treated symptomatically. She was noted to have orthostatic hypotension during these visits and was initiated on midodrine and fludrocortisone for presumed postural orthostatic tachycardia syndrome. When her symptoms did not abate, she was referred to our center for further care. At the time that we saw her, she reported nausea and vomiting in addition to the aforementioned symptoms. On careful questioning she also admitted to salt craving and unintentional weight loss of about 20 lbs over the past three months. She did not have a past history of autoimmune or endocrine disorders, but family history was positive for Grave’s disease and celiac disease in her aunt and mother respectively. Physical examination revealed hyperpigmentation of the face, knuckles, toes and abdominal scars. Random serum cortisol level was low (1.06 mcg/dL) with no perceptible response to ACTH stimulation (1.10 mcg/dL and 1.04 mcg/dL at 30 and 60 mins respectively). Serum aldosterone was undetectable (<4 ng/dL) and dehydroepiandrosterone sulfate level was low (19 mcg/dL, n: 45–295 mcg/dL). The patient was immediately initiated on corticosteroid replacement therapy. Her symptoms rapidly resolved and she was discharged on maintenance dosing of hydrocortisone and fludrocortisone. ACTH was grossly elevated (577 pg/mL) and 21-Hydroxylase antibodies were positive, confirming a diagnosis of autoimmune adrenalitis. Conclusion: Symptoms of adrenal insufficiency are often non-specific and can overlap with physiological symptoms of pregnancy. Persistence of these symptoms after delivery should raise concerns for autoimmune adrenalitis precipitated by immune reconstitution in the postpartum period.

MON-LB038 Isolated Hypoaldosteronism Due to Autoimmune Adrenalitis in a Patient With Autoimmune Polyglandular Syndrome

BACKGROUND At the initial presentation of autoimmune adrenal insufficiency, most patients present with hormonal deficiencies from all three layers of adrenal cortex. However, isolated aldosterone deficiency causing a true partial adrenal insufficiency in the setting of autoimmune adrenalitis remains underrecognized. CASE REPORT A 67-year old female patient with a known history of diabetes mellitus type 1 since the age of 13 and morphea, presented with progressively worsening symptoms of confusion and hallucinations, fatigue, and loss of appetite over the past 5 years. During this time, she has had frequent and recurrent episodes of mild intermittent hyponatremia with hyperkalemia requiring intravenous fluids and ingested salt tablets, especially when she felt more symptomatic. On her initial evaluation here, she presented with hyponatremia (125 mmol/l, n: 135-145 mmol/l), low osmolality (264 mOsm/kg, n: 275-295 mOsm/kg), and normal potassium level (3.6 mmol/l, n: 3.6-5.2 mmol/l). Further investigations drawn at the same time revealed a low aldosterone (<4 ng/dL), normal renin (5.3 ng/mL/hr, ref 2.9-10.8), normal serum cortisol level (and normal response to Cortrosyn stimulation), though all in the setting of positive antibodies against 21-hydroxylase. Pan-imaging revealed no evidence of malignancy that can be causing ectopic SIADH production. Additional testing showed presence of auto antibodies contributing to pernicious anemia and thyroid disease. Treatment was started with fludrocortisone 0.1 mg tablet daily and she was advised to take the salt tablets only if she has any symptoms. The patient’s symptoms have resolved 8 months since this diagnosis, with normalized sodium and potassium levels. CONCLUSION Autoimmune primary adrenal insufficiency usually affects all three layers of the adrenal cortex, where patients present with deficiencies in cortisol and aldosterone. Isolated hypoaldosteronism has rarely been reported, however because it can cause life-threatening hyponatremia, it is an important entity to recognize. It is important to work up in such patients as they may be in the initial stages of autoimmune Addison’s disease and can progress to developing cortisol deficiency, though the time course to this progression is not well known.

Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency

We present a boy with a genetically proven congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. While massively elevated 17-hydroxyprogesterone (17-OHP) concentrations after birth led to the diagnosis, 17-OHP concentrations became immeasurable starting with the second year of life even though the dose of hydrocortisone was continuously decreased to ∼7 mg/m2/day. Furthermore, 17-OHP levels were immeasurable during the ACTH test and after withdrawing hydrocortisone medication. In contrast, ACTH levels increased after cessation of hydrocortisone treatment suggesting complete primary adrenal cortex failure. We discuss this case based on the differential diagnosis of complete adrenal cortex failure including other genetic causes in addition to CAH, prednisolone treatment, autoimmune adrenalitis, adrenoleukodystrophy, CMV infection, and adrenal hemorrhage infarction. The most likely disease in our boy is autoimmune adrenalitis, which is difficult to prove years after the onset of the disease. Treatment of CAH had masked the classical symptoms of complete adrenal cortex insufficiency leading to delayed diagnosis in this case.