78 Years Old Male Diagnosed with 46 XX Disorder of Sex Development (DSD) Due to Congenital Adrenal Hyperplasia (CAH), Presented with Adenocarcinoma of Cervix

Presentation Number: SAT-0751
Date of Presentation: June 21st, 2014

Jamil bawerjan Alkhaddo*1, J. Bruce Redmon2, Ameer Khowaja3 and Asad Saeed4
1University of Minnesota, Minneapolis, MN, 2Univ of MN Med Sch, Minneapolis, MN, 3Hennepin County Medical Center, Minneapolis, MN, 4Univ of Minnesota, Minneapolis, MN

Abstract

78 years old Male diagnosed with 46 XX Disorder of Sex Development (DSD) due to Congenital Adrenal Hyperplasia (CAH), presented with Adenocarcinoma of Cervix

Introduction

46 XX Disorder of Sex Development (DSD) due to congenital adrenal hyperplasia (CAH) is a rare condition with wide spectrum of phenotypic manifestation from ambiguous genitalia to complete virilization. It is usually diagnosed during childhood. We present a case of 46 XX DSD due to CAH diagnosed at age of 78 years in a phenotypic male.

Clinical Case

78 year old male presented with symptoms of hematuria, increase frequency and hesitancy. He was diagnosed with UTI and sepsis. He required mechanical ventilation and pressors for hemodynamic support. A transurethral urinary catheter placement was attempted but failed, a bed side cystoscopy showed obliterated bulbar urethra.  

He had been married but did not father any children. He subsequently underwent a CT and alter a MRI of abdomen and pelvis, that showed rudimentary vagina and a Uterus was visualized too, alongwith 11.3x17x13 cm pelvic mass causing mass effect.  A 4.2 cm heterogeneous cystic structure was found on left lateral aspect, consistent with cystic ovary. A bilateral adrenal masses seen too, measuring 8.2 cm on right and 14.5 cm on left.

Karyotype analysis was done using Fluorescent In Situ Hybridization (FISH) method, which showed 97 % cells with 46 XX Karyotype. SRY gene was not detected.

After his recovery, his adrenal hormonal profile showed ACTH: 189 pg/mL (10 – 47 pg/mL), 17 OH Progesterone: more than 9000 ng/dL (20 – 190 ng/dL), morning cortisol: 8.2 µg/dL (4 – 22 µg/dL), DHEA – sulfate: 583 µg/dL (80 – 560 µg/dL) and estradiol: 92 pg/mL (6 – 50 pg/mL).

He was diagnosed with 46 XX DSD due to CAH, 21 hydroxlase deficiency. He subsequently underwent resection of pelvic mass. Surgical pathology showed moderately differentiated cervical adenocarcinoma originating from endocervix. Bilateral ovaries and fallopian tubes were also resected. Intraoperative core needle biopsy of right adrenal gland did not show evidence of adrenal malignancy.

Currently he is undergoing radiation treatment with adjuvant chemotherapy with cisplatin followed by 5-fluorouracil.  

He wished to continue to live as a male.

Conclusion

This is a rare case 46 XX DSD due to CAH diagnosed at late age of 78 years. He had a diagnosis of cervical adenocarcinoma, non- HPV related. It is of paramount importance that individuals with 46 XX DSD due to CAH receive endocrine (for appropriate hormone replacement) and surgical cares (resection of internal genitalia considering the risk of malignancy). Psychological and social support is also crucial in order to maintain quality of life. If diagnosed early in life then issues related to gender assignment need to be addressed as well.

 

Nothing to Disclose: JBA, JBR, AK, AS