Background: Cushings disease, due to ACTH-secreting pituitary adenomas, is rare in the pediatric age (0.20.5/ million people per year), although accounts for 7580% of Cushing syndrome in childhood compared to 4971% in adulthood. We report clinical presentation, diagnostic workup and treatment of a new case with major therapeutics problems.
Case report: A 15-year-old girl was referred to our clinic because of secondary amenorrhea, acne, hirsutism, and rapid weight gain (15 kg in few months). The physical examination revealed height 157 cm, weight 69.6 kg, BMI 28 kg/m2, blood pressure 140/95 mmHg, full-moon face, central obesity, wide purple striae on thighs, abdomen and arms and terminal hair on the upper abdomen, sacral region, cheeks and chin. Endocrine findings showed loss of ACTH-cortisol circadian rhythm (67 pg/ml194 μg/ml 0800 h, 109 pg/ml255 μg/ml at 1600 h), very high levels of midnight salivary cortisol (25.86 μg/ml) and urinary free cortisol (357 μg/24 h). High dose (8+8 mg/24 h), but not low dose (1 mg), dexametasone suppression test suppressed both serum and urinary cortisol and serum ACTH. MRI showed a 0.45 cm adenoma at the left side the anterior pituitary gland. Transsphenoidal adenomectomy was unsuccessful in reducing the levels of ACTH and cortisol and histological examination did not show the presence of ACTH-secreting cells. Three months later a bilateral inferior petrosal sinus sampling for ACTH, indicated lateralization of ACTH secretion to the right side the pituitary gland. Subsequent treatment options may be a new attempt of adenomectomy, a partial hypophysectomy or adrenalectomy. The latter option may cause Nelson syndrome.
Conclusion: Cushings disease in the pediatric age range may be a difficult therapeutic challenge. Trassphenoidal surgery is now considered first-line therapy, but selective microadenomectomy can be technically very difficult and an appreciable rate of failure exists.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology