Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature

22nd chromosome deletion syndrome (22q11.2 DS, del22q11.2) (with severe immunological disorders – Di Georg syndrome (SDH) or Di Giorgi syndrome (SDD)) It is one of the most common microdeletion syndromes.

The disease is based on a violation of the formation of organs originating from the third gill arch.

There is a full form of del22q11.2 syndrome with severe primary immunodeficiency (PID), congenital heart defects (CHD), hypoparathyroidism, facial skeletal abnormalities and high mortality during the first year of life, and partial forms without PID and calcium-phosphorus metabolism disorders.

The high variability of clinical manifestations explains the fact that there are many different names of the disease in the literature: Di Giorgi syndrome (SDD), Di Georg syndrome (SDH), CATCH 22, velocardiofacial syndrome, Kyler syndrome, Sprintzen syndrome, facial and conotruncal abnormalities, etc.

The term «Di Giorgi syndrome» is applicable to cases of deletion of 22q11.2 chromosome occurring with immune disorders. Despite the availability of genetic testing, many cases of 22q11.2 deletion syndrome remain undiagnosed due to its multsystem nature and varying severity of clinical manifestations, which is associated with a high risk of life-threatening complications.

We present data from a 9-year-old patient with a partial form of deletion syndrome 22q11.2, when the reason for contacting an endocrinologist was the early appearance of secondary sexual characteristics against the background of decompensated primary hypothyroidism (Van Wyk-Grombach syndrome) in the absence of violations of phosphorus-calcium metabolism and PID.

This clinical case demonstrates not only the variability of the clinical symptoms of the disease, but also the need for coordinated interaction of specialists from various specialties to diagnose polymorphic chromosomal pathology.

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