SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1. The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.

Type 1 diabetes (DM1) is classified as an autoimmune disease. An uncontrolled response of B and T lymphocytes to the body’s own tissues develops in the absence of immune tolerance. The main aim of the study was to evaluate the effect of the duration of type 1 diabetes in children on the expression of TLR receptors and the relationship with the parameters of glycemic control in patients. As a result, we showed significant differences in the level of TLR2, TLR4 and TLR9 expression in patients with DM1 in the early stage of the disease and treated chronically compared to the healthy group. Additionally, in this study, we found that the numbers of CD19+ B cells, CD3+ CD4+, CD3+ CD8+ T cells and NK cells are different for newly diagnosed DM1 individuals, patients receiving chronic treatment and for healthy controls, indicating an important role of these cells in killing pancreatic beta cells. Moreover, higher levels of IL-10 in patients with newly diagnosed DM1 have also been found, confirming the reports found in the literature.

Graves' disease (MGB) is the most common cause of hyperthyroidism in children and adolescents. This condition is more common in girls than boys, in a ratio of about 5:1. The coexistence of Graves' disease (MGB) with growth hormone deficiency (GHD) is not common. Much more often GHD connects with hypothyroidism. We present the case of 13-year old female patient with Graves' disease, diagnosed at 10 years of age and growth hormone deficiency, which was confirmed at the age of 12. Currently, the girl was qualified to growth hormone therapy. 1) Described by our case is interesting because of the rarity of coexistence Graves' disease with growth hormone deficiency. 2) GH deficiency often accompanies hypothyroidism. Note, however, that hyperthyroidism may be associated with short stature in the course of growth hormone deficiency. 3) The coexistence of endocrine disorders in childhood is not uncommon, so the diagnosis of one disease entity should not exclude further observation for the presence of other endocrine disorders.