ACTA ENDOCRINOLOGICA (BUC)

Context. Genetic factors are responsible for up to 80% of height variation in humans. SHOX gene mutation could be an important etiologic factor in short stature, being observed in up to 15% of patients. Aim. Our aim was to evaluate the genetic causes of short stature, using classical and molecular cytogenetic techniques by analyzing a group of Romanian patients diagnosed with short stature. Material and methods. Seventy nine patients were analyzed and the main criteria for inclusion in the study was the presence of a height below -2DS. For each of these patients a karyotype was performed. In those with normal karyotype it was indicated FISH technique using probes for SHOX and centromeric regions. Results and discussion. The karyotype revealed the presence of abnormalities in 13 patients (16%), 62% (8 patients) of these being represented by heterosomal abnormalities. SHOX deletion was seen in one patient (2.3%) with short stature and normal karyotype. The initial analysis of the cases with short stature directly by FISH technique can be proposed, using probes for X chromosome centromere and SHOX gene, because it allows, approximately at the same costs with the karyotype, but faster and at a higher rate of mosaicism detection, the explanation of short stature by sex chromosomes abnormalities.

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.