Cushing’s syndrome is a rare disease that results from prolonged exposure to supraphysiological levels of glucocorticoids. Severe and rapidly progressive cases are often, but not exclusively, attributable to ectopic ACTH secretion. Extreme hypercortisolism usually has florid metabolic consequences and is associated with an increased infectious and thrombotic risk. The authors report on a case of a 51-year-old male that presented with severe Cushing’s syndrome secondary to an ACTH-secreting pituitary macroadenoma, whose diagnostic workup was affected by concurrent subclinical multifocal pulmonary infectious nodules. The case is noteworthy for the atypically severe presentation of Cushing’s disease, and it should remind the clinician of the possible infectious and thrombotic complications associated with Cushing’s syndrome.
Severe Cushing’s syndrome is not always caused by ectopic ACTH secretion.
Hypercortisolism is a state of immunosuppression, being associated with an increased risk for opportunistic infections.
Infectious pulmonary infiltrates may lead to imaging diagnostic dilemmas when investigating a suspected ectopic ACTH secretion.
Cushing’s syndrome carries an increased thromboembolic risk that may even persist after successful surgical management.
Antibiotic and venous thromboembolism prophylaxis should be considered in every patient with severe Cushing’s syndrome.
K C ConlonDepartments of Professional Surgical Unit, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland Departments of Surgery, Trinity College, Dublin, Ireland
M SherlockDepartments of Endocrinology, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland Departments of Endocrinology, Trinity College, Dublin, Ireland
J GibneyDepartments of Endocrinology, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland Departments of Endocrinology, Trinity College, Dublin, Ireland
Avascular necrosis (AVN) is a rare presenting feature of endogenous hypercortisolism. If left untreated, complete collapse of the femoral head may ensue, necessitating hip replacement in up to 70% of patients. The majority of the described patients with AVN due to endogenous hypercortisolaemia required surgical intervention. A 36-year-old female, investigated for right leg pain, reported rapid weight gain, bruising and secondary amenorrhoea. She had abdominal adiposity with violaceous striae, facial plethora and hirsutism, atrophic skin, ecchymosis and proximal myopathy. Investigations confirmed cortisol excess (cortisol following low-dose 48h dexamethasone suppression test 807nmol/L; 24h urinary free cortisol 1443nmol (normal<290nmol)). Adrenocorticotrophic hormone (ACTH) was <5.0pg/mL. CT demonstrated subtle left adrenal gland hypertrophy. Hypercortisolaemia persisted after left adrenalectomy. Histology revealed primary pigmented micronodular adrenal disease. Post-operatively, right leg pain worsened and left leg pain developed, affecting mobility. MRI showed bilateral femoral head AVN. She underwent right adrenalectomy and steroid replacement was commenced. Four months after surgery, leg pain had resolved and mobility was normal. Repeat MRI showed marked improvement of radiological abnormalities in both femoral heads, consistent with spontaneous healing of AVN. We report a case of Cushing’s syndrome due to primary pigmented nodular adrenocortical disease, presenting with symptomatic AVN of both hips. This was managed conservatively from an orthopaedic perspective. Following cure of hypercortisolaemia, the patient experienced excellent recovery and remains symptom free 4 years after adrenalectomy. This is the first report of a favourable outcome over long-term follow-up of a patient with bilateral AVN of the hip, which reversed with treatment of endogenous hypercortisolaemia.
AVN of femoral head can be a presenting feature of hypercortisolism, both endogenous and exogenous.
Rarely, treatment of hypercortisolaemia can reverse AVN without the need for orthopaedic intervention.
Primary pigmented nodular adrenal disease is a rare cause of ACTH-independent Cushing’s syndrome.