Ectopic adrenal tissue, defined as the formation of adrenal tissue in an abnormal anatomical location, is not a rare entity and may have clinical significance. Even though the mechanism for their emergence has not been fully understood, numerous cases of ectopic adrenal tissue have been reported, mostly in the vicinity of the original location of adrenal gland, such as in kidneys and gonads. In these cases, most authors attributed their emergence to a probable migration defect. However, this mechanism does not simply explain the ectopic tissues in remote locations, such as in the hypophysis or lungs. This review summarizes these reports, describing many different locations in which ectopic adrenal tissues were encountered, together with their suggested mechanisms.

Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood. It is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patients from two families who have clinical and hormonal features compatible with corticosterone methyloxidase deficiency and inherit novel CYP11B2 variants. All of the patients presented with vomiting, failure to thrive and severe dehydration except one patient who had only failure to thrive. Biochemical studies showed hyponatremia, hyperkalemia and acidosis. All patients had normal cortisol response to adrenocorticotropic hormone stimulation test and had elevated plasma renin activity with low aldosterone levels. Three patients from the same family were found a novel homozygous variant c.1175T>C (p.Leu392Pro) and a known homozygous variant c.788T>A(p.Ile263Asn) in CYP11B2 gene. In one patient had a novel homozygous variant c.666_667delCT (p.Phe223ProfsTer35) ] in the CYP11B2 gene which caused a frame shift, forming a stop codon. Corticosterone methyleoxidase deficiency should be considered as a differential diagnosis in patients presenting with hyponatremia, hyperkalemia and growth retardation, and it should not be forgotten that this condition is life-threatening if untreated. Genetic analyses are helpful in diagnosis of the patients and their relatives. Family screening is important for an early diagnosis and treatment. In our cases, we identified novel variants that were not previously reported in the literature, and which are likely to be associated with the disease.