Congenital adrenal hyperplasia and adrenocortical tumor - A case report and review of the literature

Adrenal tumors have a high incidence in patients with homozygous CAH and also in those with heterozygous CAH. A high incidence of adrenal masses, nearly 82% in homozygous and 45% in heterozygous patients, was found. We report a 39-years-old female presented at ER with worsen abdominal pain and revealed a large adrenal tumor. She has a 9-years-old daughter, who was suspected to be a patient of CAH with simple virilized type at NCKUH. Physical examination showed no picture of Cushingoid appearance, no hypertension history, and no virilized picture except mild hirsutism over lower abdominal area. BMI is 21.2 kg/m2. No anemia, no electrolyte abnormality was noted on laboratory examination except androgen level was slightly high. 17-hydroxyprogesterone was 93 ng/dl with normal range for adult women. Abdominal image revealed a huge right retroperitoneal tumor, 12-13 cm in diameter. Exploratory laparotomy was done and adrenocortical adenoma was reported pathologically. Genetic analysis on this patient and her daughter was performed and it revealed a deletion in codon 707-714, del GAGACTAC (or GTAGTCTC) on chromosome 6p21.3. This mutation is in a very rare position and may be a new finding in CAH. CAH is a familiar autosomal recessive disorder and may be the most frequent inherited mutation in human, except the sex chromosome. A high incidence of adrenal masses was noted in CAH. The pathogenesis yet to be determined. Recent reports from literatures about CAH and adrenocortical tumor were reviewed.