[Female pseudohermaphroditism in congenital adrenogenital syndrome as an incidental intraoperative finding in a 68 year old patient].

HISTORY AND CLINICAL FINDINGS

A 68-year-old man of small stature, previously always healthy and with a grown-up daughter, was suspected of having carcinoma of the colon with metastasis to the right kidney. At laparotomy internal female genitalia with cancerous changes were unexpectedly discovered in the left adnexae. The colon carcinoma, the right adrenocortical tumour and left adnexae were resected.

INVESTIGATIONS

Histological examination revealed adenocarcinoma of the colon, right adrenocortical adenoma and a Brenner tumour of the left female adnexae. Postoperative tests showed increased levels of 17-OH-progesterone (3192 ng/dl), 21-desoxycortisol (1856 ng/dl) and of adrostenedione (745 ng/dl), while the concentrations of 17-OH pregnenolone, testosterone and mineralocorticoids were within normal limits. Chromosome analysis demonstrated karyotype 46 XX.

DIAGNOSIS, TREATMENT AND COURSE: As far as could be ascertained, this is the first documented case in the German-speaking region of female pseudohermaphroditism diagnosed in an elderly person with uncomplicated virilizing congenital adrenogrenital syndrome due to 21-hydroxylase deficiency (deletion of CYP21 gene). To avoid a cortisone deficiency crisis the patient was regularly given hydrocortisone and he quickly recovered. But he died 6 months later of sequelae of the carcinoma of the colon.

CONCLUSION

An adrenogenital syndrome should be excluded in a case of bilateral adrenocortical tumour. As this is usually benign, conservative treatment should be attempted. This case demonstrates the necessity of thorough examination which could have given an early indication of the underlying condition.