Endocrine Abstracts

Introduction: Cushing’s disease (CD) is a rare but serious pathology in children and adolescents. It differs from adult pathology by the mode of presentation and management. We report a case of CD in a 14-year-old child whose diagnosis was confirmed only after 2 years.

Observation: This was a 14-year-old female patient with a family history of consanguineous marriage and personal history of nephrotic syndrome who presented with delayed stature, delayed puberty and obesity. On initial examination, she had Cushing’s syndrome with facio-truncular obesity, buffalo hump, spontaneous bruising, and purple stretch marks. Her Weight was +2SD, her height was -4SD, with BMI of 33.5 kg/m2.Tanner score was A2P2S2R0. The diagnosis of ACTH-dependent Cushing’s syndrome was made in view of an abolished cortisol cycle, an elevated CLU of 182 mg/24h and a low post-braking cortisol level of 140 ng/ml with an elevated ACTH of 97 pg/ml. Investigations to decide between a central origin and ectopic ACTH secretion were initially discordant. In favor of CD: Positive desmopressin test, elevation of Cortisolaemia of 30% higher, and ACTH of 20%higher, no carcinoid tumor on thoracic CT scan and no pathological fixation on Octreoscan. Negative strong braking (Cortisol level at 170 ng/ml) andHypothalamic-pituitary MRI without abnormalities were in favor of ectopic ACTH secretion. A second hypothalamic-pituitary MRI was performed 6 months after the diagnosis of CS, showing a right anterolateral microadenoma of 3. 4 *5 mm with a small dehiscence of the sellar floor, There was no evidence of multiple endocrine neoplasia. Thoracoabdomino-pelvic CT scan showed bilateral adrenal hypertrophy predominantly on the left. The patient received a preparation with ketoconazole and then was operated: A complete excision of the friable microadenoma and all the surrounding parenchyma was passed without incidents. Immediately postoperatively, the patient presented with central diabetes insipidus and recurrent bacterial meningitis. An osteomeningeal breach was surgically repaired in a second stage. She presented panhypopituitarism and was substituted with Lthyroxine and hydrcortisone.Currently, at one and a half years postoperatively, the patient retains signs of hypercorticism with faciotruncal obesity. The 8-h cortisol level is less than 2 ng/ml confirming corticotropic insufficiency, a key biological marker of remission. Discussion/Conclusion: Our case illustrates the diagnostic and therapeutic difficulty of CD in an adolescent girl. Since the cure rate is lower than in adults with a higher risk of recurrence and a shorter median recurrence time, a long term follow-up and a cardiovascular, metabolic and bone assessment in our patient is crucial.