Background. Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes. Case presentation Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention. Conclusions Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.

No abstract

Central precocious puberty results from the premature activation of the hypothalamic-pituitary-gonadal axis. Rarely congenital adrenal hyperplasia and/or its inappropriate treatment can be a peripheral cause of CPP. There are very few case reports of this etiology. Chronic mildly to moderately elevated adrenal androgens or intermittent hyperandrogenemia in congenital adrenal hyperplasia may trigger the precocious activation of the hypothalamic-pituitary axis, leading to CPP. In the current work, we describe 6 cases of late diagnosis of congenital adrenal hyperplasia associated with central precocious puberty. Central precocious puberty seems to be a complication of congenital adrenal hyperplasia, particularly in countries where a routine neonatal screening program for this condition is lacking. It is unclear whether these patients could avoid central precocious puberty development if the congenital adrenal hyperplasia was diagnosed in the neonatal period and appropriately treated. The current work underlines the need for congenital adrenal hyperplasia neonatal screening implementation and further investigation of the association of these two endocrine disorders.

No abstract