First Report of Large Uterine Myelolipoma in a Woman with 11-Beta Hydroxylase Deficiency

Presentation Number: SAT-0772
Date of Presentation: June 21st, 2014

Melissa Sawyer*1, Gauri Dhir2 and Marc J Laufgraben3
1Aria Health, Philadelphia, PA, 2Cooper University Hospital, Bala Cynwyd, PA, 3Cooper University Hospital, Camden, NJ

Abstract

First report of large uterine myelolipoma  in a woman with 11-β hydroxylase deficiency

Sawyer ML,  Laufgraben MJ,   Dhir G.

Department of Endocrinology, Diabetes and Metabolism, Cooper Medical School of Rowan University, Camden, NJ

Department of Medicine, Aria Health, Langhorne, PA

Background: CAH patients are at increased risk of developing adrenal myelolipomas and testicular adrenal rest tumors, but uterine leiomyoma has only been reported in a single case of a woman with 21-hydroxylase deficiency .  We provide the first report of a large uterine  leiomyoma in a woman  with 11-β hydroxylase deficiency.

Case presentation: A 24 yo African American female with 11-β hydroxylase deficiency presented with increasing abdominal girth associated with abdominal pain, nausea and vomiting. She had been diagnosed with CAH due to 11-β hydroxylase deficiency shortly after being born with ambiguous genitalia. She had been treated with hydrocortisone and had corrective vaginal surgery at 7 months. At age 10, she developed HTN requiring treatment with multiple antihypertensive agents. She was nonadherent with her treatment and was lost to follow-up for many years prior to presenting with abdominal signs and symptoms. Abdominal exam revealed a large, soft and nontender pelvic mass extending to xiphisternum suggestive of a uterus at 36 weeks gestation.  However, a pregnancy test was negative. CT revealed bilaterally enlarged adrenal glands and a large tumor originating from the uterus measuring 19.5 x 17.0 x 20.5 cm.  She underwent total abdominal hysterectomy with bilateral salpingectomy. The resected mass measured 17 x 15 x 17 cm and weighed 3620 gm. Pathology demonstrated features of a typical benign leiomyoma.

Conclusion: We believe this is the first case report of a large uterine leiomyoma presenting in a woman with 11-β hydroxylase deficiency. Leiomyoma in women with CAH is exceedingly rare, with only one prior report of multiple uterine leiomyomas in a woman with 21-hydroxylase deficiency.  The growth of uterine leiomyoma is generally associated with stimulation by estrogen and progesterone, and would be expected to be inhibited in a high androgen environment as seen in 21-hydroxylase deficiency and 11-β hydroxylase deficiency. In vitro analysis of hormone receptors in the leiomyoma tissue from such unusual patients would be most illuminating.

 

Nothing to Disclose: MS, GD, MJL