Female pseudohermaphroditsm in congenital adrenogenital syndrome due to 21-hydroxylase deficiency as an incidental intraoperative finding in a 68-year-old patient

History and clinical findings: A 68-year-old man of small stature, previous ly always healthy and with a grown-up daughter, was suspected of having car cinoma of the colon with metastasis to the right kidney. At laparotomy inte rnal female genitalia with cancerous changes were unexpectedly discovered i n the left adnexae. The colon carcinoma, the right adrenocortical tumour an d left adnexae were resected. Investigations: Histological examination revealed adenocarcinoma of the col on, right adrenocortical adenoma and a Brenner tumour of the left female ad nexae. Postoperative tests showed increased levels of 17-OH-progesterone (3 192 ng/dl), 27-desoxycortisol (1856 ng/dl) and of adrostenedione (745 ng/dl ), while the concentrations of 17-OH pregnenolone, testosterone and mineral ocorticoids were within normal limits. Chromosome analysis demonstrated kar yotype 46 XX. Diagnosis, treatment and course: As far as could be ascertained, this is th e first documented case in the German-speaking region of female pseudoherma phroditism diagnosed in an elderly person with uncomplicated virilizing con genital adrenogrenital syndrome due to 21-hydroxylase deficiency (deletion of CYP21 gene). To avoid a cortisone deficiency crisis the patient was regu larly given hydrocortisone and he quickly recovered. But he died 6 months l ater of sequelae of the carcinoma of the colon. Conclusion: An adrenogenital syndrome should be excluded in a case of bilat eral adrenocortical tumour. As this is usually benign, conservative treatme nt should be attempted, This case demonstrates the necessity of thorough ex amination which could have given an early indication of the underlying cond ition.