Hypoparathyroidism is one of the major symptoms of type 1 autoimmune polyglandular syndrome. Currently, vitamin D preparations are the treatment of choice for hypoparathyroidism of any etiology. The treatment with these medications is quite effective to normalize and maintain calcium level. The world experience in application of the recombinant parathyroid hormone for the treatment of hypoparathyroidism is very limited and indications for its use are not determined. However, there are increasingly more publications reflecting the experience in treatment of patients with hypoparathyroidism with the parathyroid hormone. Type 1 autoimmune polyglandular syndrome is characterized by multiform clinical manifestations and for this reason it is often difficult to achieve compensation using replacement therapy. Autoimmune enteropathy often develops, which leads to severe malabsorption of nutrients and drugs in the intestine and inefficient replacement therapy, which necessitates a special approach and additional recommendations for the treatment of these patients with combined pathology of several organs and systems. This article describes the first Russian experience in the use of teriparatide pump therapy in a female patients with hypoparathyroidism as a part of severe autoimmune polyglandular syndrome.

Application of genetic analysis in clinical practice enables identifying a combination of two rare diseases in one patient. We report two cases of patients with hypopituitarism due to PROP1 gene mutations in combination with the 47,XYY karyotype (case 1) and autosomal dominant partial atrioventricular septal defect (case 2). These clinical cases clearly demonstrate that several rare diseases can be present in one patient. The morphology of the pituitary gland has specific features in patients with a PROP1 gene mutation: signal inversion on T1- and T2-weighted images, as well as changes in size of the pituitary gland over time. In case of short stature, the hormonal evidence of secondary hypopituitarism, low IGF-1 levels, and specific morphological features observed in MRI images, we recommended carrying out molecular genetic analysis of the PROP1 gene without conducting growth hormone stimulation test.