| ObjectiveThis study aimed to investigate the pathogenesis, clinical manifestations, diagnosis, treatment and prognosis of 21-hydroxylase deficiency congenital adrenal hyperplasia with bilateral testicular adrenal rest tumors and adrenal myelolipomas.Methods and ResultsThe histroy of a 25-year-old infertile male complaint of bilateral testicular enlargement was reviewed. Frequent vomitting and dehydration were observed in his neonatal period. Precocious puberty occurred when he was approximately 8 years old and his final stature is short. Reduced serum levels of cortisol (164.36nmol 1-1 at 8am), follicle stimulating hormone (FSH,0.33UI 1-1) and luteinizing hormone (LH,<0.07UI 1-1) were found, whereas adrenocorticotropic hormone (ACTH,134.0pg ml-1 at 8am), plasma renin activity (PLA,18.00μg 1-1 h-1 at lying position), testosterone (T,52.05 nmol 1-1), dehydroepiandrosterone sulfate (DHAS,890.80μg dl-1), progesterone (P, 31.36nmol 1-1), estradiol (E,251.43pmol 1-1) and prolactin (PRL,394.56mUI 1-1) were in high levels. Aldosterone (185.6ng 1-1 at lying position), serum sodium (Na,139.6 mmol 1-1), serum potassium (K,3.95mmol 1-1), alpha fetoprotein (AFP,3.1ng ml-1), human chorionic gonadotrophin (HCG,<2mUI 1-1) and lactate dehydrogenase (LDH, 161UI 1-1) were within normal ranges. At the same time, He was found to be hypogonadal with azoospermia. A scrotal ultrasound revealed both testes were occupied by tumors. An enhanced CT scan of the abdomen revealed that bilateral testicular tumors and adrenal occupying leisions that were of very low density consistent with adrenal medullary lipomas. Meanwhile, hyperplastic adrenals were observed. CT-guided biopsy of left adrenal tumor showed adrenal myelolipoma. An incisional biopsy of bilateral testicular tumors was arranged, after induction of general anesthesia, the patient show the sign of shock. Histology and immunohistochemical staining of testicular tumors considered them as testicular Leydig tumors. Gene test report showed mutation of CYP21A2 which could lead to deficiency of 21-hydroxylase and the final diagnosis is 21-hydroxylase deficiency congenital adrenal hyperplasia with bilateral testicular adrenal rest tumors and adrenal myelolipomas. Then the patient was referred to an endocrinologist for further evaluation and treatment. Through glucocorticoid replacement therapy, the patient’s testes have shrunk dramatically and for now the patient is still in follow-up.ConclusionsCongenital adrenal hyperplasia is a family of autosomal recessive disorders involving impaired synthesis of cortisol and aldosterone from cholesterol by the adrenal cortex, among them 21-hydroxylase deficiency is the most common cause. Corticotropin level is elevated and excessive adrenal androgen is biosynthesized through feed-back system.Chronic stimulation of the adrenal cortex by corticotropin results in adrenal hyperplasia. A portion of 21-OHD CAH patients are complicated by bilateral testicular adrenal rest tumors and/or adrenal myelolipomas. Impaired testicular parenchyma by adrenal rest tumors together with supression of hypothalamus-pituitary-gonadal axis make it vulnerable to infertility. Patients with congenital adrenal hyperplasia need a multidisciplinary team of specialists, it is important to initiate glucocorticoid and/or mineralocorticoid replacement therapy as soon as early. |
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