ACTA ENDOCRINOLOGICA (BUC)

Introduction. First election treatment in Cushing’s syndrome is the surgical therapy (pituitary or adrenal). Pharmacotherapy is used: before surgery, when the surgery was ineffective, in association with radiotherapy or in cases of refuse or contraindications for surgery. Aim of the study. Testing the effectiveness and safety of Ketoconazole treatment in patients with Cushing’s syndrome. Methods. We studied 12 patients with Cushing’s syndrome treated with Ketoconazole between 2010 and 2013. We followed cortisol levels before and during treatment, the doses of Ketoconazole and the time required for normalization of cortisol, “the escape syndrome” and the adverse effects. Results. Eleven (91,66%) patients had ACTH – dependent Cushing’s syndrome. The mean basal cortisol before initiation of the therapy was 404.4 ± 71 ng/ml. Two thirds (eight) patients presented a normalization of serum cortisol levels with 300-800 mg Ketoconazole/day, during a mean of 8.5 weeks. Only one patient presented an “escape syndrome” and one presented adrenal insufficiency. None of the patients showed significant side effects under the treatment. Conclusions. Ketoconazole therapy is well tolerated and is effective in most patients with Cushing’s syndrome even in long term use. The resistance and the escape from the effect of the treatment is possible, but rare, patients requiring close monitoring during therapy.

Introduction. McCune-Albright syndrome (MAS) is a noninherited, genetic condition defined by the clinical triad: polyostotic fibrous dysplasia (FD), café-aulait skin spots and different hyper functioning endocrinopathies. Case presentation. The patient, a 39-year-old female previously diagnosed with MAS, presented with severe, left-sided skeletal pain and accentuated asymmetrical facial features. Although there were no clinical signs (except type II diabetes) the hormonal dosages revealed GH hypersecretion and ACTH-independent hypercortisolism. The modified bone anatomy rendered the surgical adenomectomy impossible, whereas radiotherapy was not an option due to the increased risk of sarcomatous transformation of FD; therefore somatostatin analogues were used. Cushing syndrome was cured by left adrenalectomy. For the facial dysmorphism, surgical cure was proposed. CT revealed a pituitary microadenoma, severe craniofacial hyperostosis and left-side macronodular adrenal hyperplasia. Conclusion. We report the case of an adult female with MAS associating both acromegaly and Cushing syndrome, the MAS-Cushing syndrome association having been identified only in children up to present. The setting of a therapeutic strategy in these cases is difficult determined by the multiple concomitant tissue damage and by the limited number of therapeutic options available, not only for acromegaly, but also for pain management and the cure of bone deformities.

Context. Optical Coherence Tomography (OCT) is a non-invasive diagnostic imaging technique, providing histological-like, high resolution transverse-section images of the eye structures. Objective. To quantify optic nerve’s alterations in optochiasmatic syndrome by OCT and with a classical investigation: visual field. Design. We present a patient with a giant pituitary tumor and chiasmatic compression, first seen in 2013, treated and reassessed in 2014. Subjects and Methods. Patient demanded an ophthalmological exam because of visual disturbances. Ophthalmic exam included: visual field (VF) test (with automated static perimetry – Oculus Centerfield), measurements of the Retinal Nerve Fibre Layer (RNFL) and optic nerve head (ONH) by OCT scans – using a Stratus Zeiss 3000 device. Brain MRI was made and the patient was then assessed by endocrinologist. Results. Patient has bitemporal hemianopia. OCT showed, in both eyes, slight optic disc (ONH) edema and RNFL loss, mainly in the nasal quadrant (optic nerve “band atrophy”), correspondent with visual field temporal defect. Brain MRI and endocrine evaluation revealed a macroprolactinoma, optochiasmatic syndrome, panhypopituitarism and abdominal obesity. Under treatment we noted significant reduction in tumour size, correlated with remission of ONH edema and visual field almost normalized. Reviewed published data about visual field defects and optic nerve OCT measurements, in different types of pituitary tumours, fits well the case presented. Conclusions. OCT is a very useful and accurate objective investigation for diagnosis and follow-up in structural optic nerve changes caused by chiasmatic compression. Measurements are complementary to those provided by perimetry – a subjective, functional investigation, depending on patient skills.

Background. ROHHADNET syndrome is a pleiotropic disorder defined by rapid onset of obesity, hypothalamic-pituitary endocrine dysfunctions, alveolar hypoventilation and hypothalamic autonomic dysregulation and neural tumors. Case presentation. We report the case of a 5.8-year-old female patient with rapid onset of obesity and growth arrest, hypercortisolism, hyperprolactinemia, low IGF1, severe hypernatremia (with no signs of diabetes insipidus) and chronic hyperchloremic metabolic acidosis. Additional symptoms included sleep apnea and two episodes of cardiopulmonary arrest after mild sedation. Brain MRI, chest and abdominal enhanced CT scans were all negative. As no tumors were revealed at the time of diagnosis, ROHHAD syndrome was suspected. Treatment with potassium bicarbonate was initiated in an attempt to control both the severe hypernatremia and chronic hyperchloremic metabolic acidosis. Patient developed dilated cardiomyopathy and kaliopenic nephropathy. Conclusion. The presence of dilated cardiomyopathy is in keeping with only one other reported case, while the severe hypernatremia joined by hyperchloremic metabolic acidosis seen in our patient has not been presented previously. Although it is a very rare medical condition, ROHHAD syndrome has to be considered in the differential diagnosis of any case with rapid onset obesity associated with hypothalamic-pituitary endocrine dysfunctions, and alveolar hypoventilation.