Adrenal insufficiency in a child following unilateral excision of a dual-hormone secreting phaeochromocytoma

[摘要] Phaeochromocytomas are a rare clinical entity, with dual hormone-secreting lesions particularly uncommon, seen in!1%. ACTH is the most common hormone co-produced, and is potentially lethal if not diagnosed. We present the case ofa previously well 10-year-old boy, who presented acutely with a hypertensive crisis and was found to have a unilateral,non-syndromic phaeochromocytoma. Medical stabilization of his hypertension was challenging, and took 3 weeks toachieve, before proceeding to unilateral adrenalectomy. Post-operatively the child experienced severe fatigue and wassubsequently confirmed to have adrenal insufficiency. He improved markedly with hydrocortisone replacement therapy,which is ongoing 6 months post-operatively. In retrospect this likely represents unrecognized, sub-clinical ACTH-dependentCushing’s syndrome secondary to an ACTH/or precursor dual-hormone secreting phaeochromocytoma. At follow-up,his hypertension had resolved, there was no biochemical evidence of recurrence of the phaeochromocytoma, andgenetic analysis was indicative of a sporadic lesion.

[学科分类] 血液学

[关键词] Paediatric;Male;Native Hawaiian/other Pacific Islander;New Zealand;Adrenal;Pituitary;Adrenal;Normetanephrine;Noradrenaline;ACTH;Phaeochromocytoma;Hypertension;Cushing's syndrome;Adrenal insufficiency;Seizures;Headache;Photophobia;Fatigue;Anxiety;Sweating;Palpitations;Vomiting;Tremulousness;Myasthaenia;Cutaneous pigmentation;CT scan;MRI;Ultrasound scan;Creatinine (serum);Potassium;Normetanephrine;Norepinephrine;Vanillylmandelic acid (24-hour urine);Immunohistochemistry;ACTH;ACTH stimulation;Adrenalectomy;Alpha-blockers;Beta-blockers;Labetalol;Phenoxybenzamine;Atenolol;Glucocorticoids;Unique/unexpected symptoms or presentations of a disease;June;2015