Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary

Abstract

We report the case of a 36-year-old woman with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, and corticosteroid replacement therapy since birth. She manifested persistent virilization and high testosterone levels that were attributed to nonadherence to medical treatment. The patient was referred to our gender unit for genitoplastic surgery. We recommended the patient for left oophorectomy after detecting an ovarian mass. Pathologic findings confirmed an ovarian hilus cell tumor. Testosterone levels fell back to normal and masculinization disappeared but ACTH remained elevated. This case represents a very rare type of primary ovarian tumor that must be considered in persistent virilizing symptoms in women with CAH.

Ovarian Steroid Cell Tumor Masquerading as Steroid-Unresponsive Congenital Adrenal Hyperplasia

“…If virilization persists after resection, medical history and clinical signs and symptoms may be helpful in differentiating an ovarian adrenal rest tumor from a primary ASN in the presence of CAH. 8 , 9 For cases in which imaging is inconclusive, selective venous sampling may localize the source of androgen, similar to the presented case. 17 …”

“…The latter have been classified as primary virilizing tumors, similar to our patient, ovarian adrenal rest tumors, or coexisting with CAH. 8 , 9 It also demonstrates the efficacy of selective venous sampling for localization of hyperandrogenism in a pediatric patient with negative imaging studies.…”

“…Elevated ACTH concentrations or other steroidogenic enzyme defects may inappropriately stimulate the adrenal tissue, creating functional ectopic adrenal glands. 8 , 9 Thomas et al 8 reported persistent testosterone and 17-OHP elevation in a 17-year-old girl with CAH and poor medication compliance. An ultrasound revealed an ovarian tumor, which upon resection was diagnosed as an SCT, NOS.…”

“… 17 If an ovarian tumor is seen on imaging, CAH cannot be excluded due to a potential adrenal rest tumor. 9 Additionally, ASN can coexist with CAH. If virilization persists after resection, medical history and clinical signs and symptoms may be helpful in differentiating an ovarian adrenal rest tumor from a primary ASN in the presence of CAH.…”

Sertoli-Leydig cell tumour in a patient with non-classic congenital adrenal hyperplasia: an uncommon duo

“…The coexistence of primary virilising ovarian tumours in patients with CAH is unusual and there have been very few cases reported. In literature, we are only aware of two cases of ovarian tumour of Leydig cells in patients affected by simple virilising CAH, in that case 11-hydroxylase deficiency 9 10. It has been hypothesised that hyperandrogenism in CAH is accompanied by peripheral aromatisation, leading to secondary hyperestrogenism and increased secretion of LH, stimulating the growth of ovarian interstitial tissue 10…”