Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, electrolyte disorders like a hypernatriemia, and neural tumor (ROHHADNET) is a newly described syndrome that can cause cardioresperitory arrests and death. It mimics several endocrine disorders or genetic obesity syndromes during early childhood and is associated with various forms of hypothalamic-pituitary endocrine dysfunctions that have not yet been fully investigated. The article describes the clinical case of a 4-year old patient.
Pseudo-hypothyroidism (PHP) is a rare genetic disorder that manifests itself in the form of disturbances of phosphorus and calcium metabolism due to parathyroid hormone (PTH) resistance. The clinical variant of PHP depends not only on PTH resistance: there is a phenotype attributable to multi-hormonal resistance. PTH resistance is associated with the disturbance of activity of the alpha-subunit in G-protein due to a defect in the GNAS gene and epigenetic variations. The mechanism underlying the development of this rare (orphan) condition is highly complicated and remains to be elucidated. The present review reflects the modern views of etiology, pathogenesis, and clinical variability of pseudohypothyroidism.
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