先天性副腎皮質過形成

Abstract

The patient was admitted with complaint of abnormality of the external genitalia. Physical examination revealed ambiguous external genitalia with an enl a rged clitoris, perineal urethral meatus and cleft labial folds. No gonads were palpable. A buccal smear test showed the female pattern. Forty-six sex chromatin masses were present per 100 nuclei. By examination of blood film, 18 typical drumstick appendages were found in 100 neutrophil leukocytes. Endocrine studies showed that the urinary excreation of 17ketosteroids was 27.4 mg, per day and urinary gonadotrophins had moderately elevated. Presacral retroperitoneal pneumography demonstrated left adrenal and right adrenal calcifications. Surgical treatment was performed in two stages ; the first surgery consisted of the left adrenalectomy and the second one, partial resection of right adrenal gland. The histological examination of the adrenal glands showed adrenocortical hyperplasia. A discussion was made on adrenogenital syndrome.