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Endocrine Abstracts (2014) 35 P823 | DOI: 10.1530/endoabs.35.P823

1Endocrinology Department, Hospital de Braga, Braga, Portugal; 2Paediatrics Department, Hospital de Braga, Braga, Portugal; 3Neurosurgery Department, Hospital de Braga, Portugal, Braga, Portugal; 4Paediatric Endocrine Group, Hospital de Braga, Braga, Portugal; 5Pituitary Tumours Group, Hospital de Braga, Braga, Portugal.


Introduction: Cushing’s disease (CD) is rare in children. It’s most common clinical manifestations are growth retardation, changes in pubertal development and weight gain. The diagnosis, based on clinical suspicion, is often hampered by the non identification of the microadenoma in MRI.

Clinical history: A 14-year-old male patient, with short stature, growth arrest after 12 years and weight gain since age of 9. At physical examination, he had moon face, facial flushing, acne, abdominal obesity. BP 131/75 mmHg (P95), weight 54.5 kg (P75), height 135 cm (<<P3), BMI 29.9 kg/m2 (>P95), Tanner: P2, A1, G1. Bone and chronological age were similar.

Etiologic study and evolution: Thyroid function, IGF1 and prolactin were normal, FSH 0.33 mIU/ml and LH <0.1 mIU/ml. Androgens were compatible with Tanner stage 2. Urinary 24 h cortisol was increased (1.9–8 times normal) and had absent cortisol circadian rhythm (serum cortisol at 23 h: 9.74 μg/dl). High-dose dexamethasone suppression test detected 52.2% reduction in serum cortisol, suggestive of ACTH dependent Cushing’s syndrome. Pituitary MRI and adrenal CT were normal. Hypercortisolism persisted and after 16 months pituitary MRI was still normal. Inferior petrosal sinuses catheterization was suggestive of CD and the pituitary MRI, 8 months later, revealed a slight pituitary asymmetry, with a 2.5 mm hyperintense area on T2. He was submitted to transphenoidal surgery with apparent removal of the tumor. Histological result was normal pituitary tissue. In spite of that, the patient had decreased weight, resumption of growth and adequate pubertal development. His final/targeted height was 151/164 cm (P<<3/P10). Three years after surgery, he remains in clinical and analytical remission.

Discussion: This case had a successful evolution, but highlights the difficulties of CD diagnosis in children. Time between clinical suspicion and definitive treatment can be long, and the therapeutic decision must take into account all the risks and benefits involved.

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