For a study, researchers sought to understand that the diagnosis of the pathogenesis of primary adrenal insufficiency in children is complex and difficult due to the non-specific and wide clinical characteristics. The most frequent cause, congenital adrenal hyperplasia, has been linked to an increasing number of additional genetic factors. Because it was a relatively uncommon cause of primary adrenal insufficiency, GNAS mutation was simply disregarded. The first case of primary adrenal insufficiency brought on by a GNAS mutation in a newborn was described in the study. About 10 days after birth, a kid was identified as having congenital hypothyroidism, and treatment was started right away. He also had persistent hyperkalemia, high levels of adrenocorticotropic hormone, and hyponatremia. He was taken to the hospital 70 days after birth in case he had congenital adrenal hyperplasia. A medical examination revealed just growth delay; no other anomalies were discovered. Cortisol, 17-hydroxyprogesterone, and androstenedione concentrations were within the normal range, but aldosterone levels increased in the laboratory. Normal blood calcium levels and an exceptionally high level of parathyroid hormone were both found. A de novo, heterozygous c.432 + 1G more than A variation in GNAS was discovered through genetic study. Investigators provided the instance to draw attention to the uncommonness of GNAS mutation as the main cause of adrenal insufficiency. This disorder can be diagnosed using a combination of primary hypothyroidism and/or pseudohypoparathyroidism.

Source: bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03517-6