ESPE Abstracts

We present the case of a 16.5-year-old short, thin boy with Cushing disease. The first symptom of the disease was spinal pain and vertebral fractures attributed to osteoporosis. The patient was admitted to the clinic due to severe back pain. On dual X-ray absorptiometry (DXA), the Z-score TBLH was: -1.9, Z-score Spine: -4.2. The X-ray and magnetic resonance imaging (MRI) revealed multilevel fractures of the thoracolumbar vertebrae. The causes of this condition initially remained unknown. The boy was during puberty but short and thin (height: 162 cm, <3 percentile, BMI: 18.1 kg/m2). In March 2021, at the age of 15.5 years, the boy was diagnosed with autoimmune hepatitis. For this reason, oral steroid therapy with deflazacort (Calcort) was introduced at an initial dose of 24 mg in the morning + 18 mg in the afternoon, which was gradually reduced. Spinal pain appeared as early as day 5 of steroid therapy, which argued against pharmacotherapy-related osteoporosis. From the age of 11, the boy's growth rate slowed down and at that time he presented short stature - therefore a hormonal diagnosis was performed (during the administered steroid therapy). Growth hormone deficiency, hypothyroidism and coeliac disease were excluded as causes of short stature. An pituitary gland MRI examination described a poorly demarcated area measuring approximately 2 x 3.5 x 5 mm in the anterior part of the glandular lobe. The MRI examination was repeated after 5 months - the previously observed area was faintly visible. During the endocrine check-up, attention was drawn to the "rigid" rhythm of ACTH and cortisol secretion (despite the cessation of steroid treatment over the past few months). A dexamethasone inhibition test was therefore performed, the results of which indicated Cushing disease, however, no ion, lipid and blood count abnormalities were observed in the patient. Due to the raised suspicion of Cushing disease, in March 2022 the patient underwent a bilateral inferior petrosal sinus sampling. ACTH-dependent hypercorticosolaemia of pituitary origin was confirmed. The boy was qualified for transsphenoidal surgery of the pituitary adenoma. Postoperative histopathological examination revealed features of a corticotroph-rich pituitary adenoma.

Conclusion: The case we present is an atypical presentation of Cushing disease, in which the first symptom – apart from short stature - was osteoporosis. Traits characteristic for the disease - such as striae, abnormal fat distribution or typical features in laboratory tests including ionic, lipid or blood count disturbances were not found.