INTRODUCTION. Endogenous Cushing’s syndrome (CS) is rare in children and adolescents and its diversified clinical presentation hinders diagnosis and treatment.
MATERIAL AND METHODS. The analysis included 10 patients aged 1 month to 16 years of life with endogenous CS, who were treated at the Department within the past 30 years: 4 adrenal carcinomas (AC), 2 adenomas, 3 pituitary microadenomas (Cushing’s disease [CD]), 1 primary pigmented nodular adrenocortical disease (PPNAD), to demonstrate diagnostic and therapeutic problems typical of various CS forms. The problems were exemplified by a 6-month old boy with AC, a 7-year old girl with PPNAD and a 16-year old girl with CD.
RESULTS. Common properties included cushingoid obesity, hypertension, a variable degree of androgenization and delay in growth velocity, precocious puberty (AC, PPNAD) or secondary amenorrhea (CD), plethora (AC) and striae (CD). In all 10 analyzed patients, the presence and intensity of clinical signs of CS depended on age, intensity of hormonal abnormalieties, duration of disease and its form. All the patients demonstrated abnormal 24 hour rhythm of cortisolemia and in AC hypercortisolemia with increased urinary cortisol excretion, increased cortisol excretion (CD, PPNAD), which was cyclic in character in PPNAD. Organic lesions were visualized by CT and MRI in AC, but not seen in PPNAD and CD. In diagnosing CD, CRH test was helpful; while diagnosing PPNAD was facilitated by steroid profiling by GC-MS. Controlling hypertension in a patient with AC (200/140 mm Hg) required inhibition of mineralocorticoids and cortisol synthesis (ketoconazole, mitotane). Following surgical treatment, all the patients showed resolution of Cushing’s symptoms. Hydrocortisone substitution was introduced in all the patients (in a PPNAD girl subjected to a unilateral adrenalectomy, after an adrenal crisis). An AC patient administered mitotane for 7 months postoperatively, showed carcinoma recurrence after 4 years in MRI an GC-MS examinations.
CONCLUSIONS. Hypercortisolemia in children may be life threatening and determination of its causes and treatment modality requires an individualized approach.