Multiple Adverse Outcomes in A Case of Untreated Simple Virilizing Congenital Adrenal Hyperplasia

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 29-49-Congenital Adrenal Hyperplasia & Ectopic Cushing's
Clinical
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-34
Ashwini Mallappa*1, Andrea Estrada2, Carol Van Ryzin1, Corina M. Millo3, Nilo A. Avila4, Dhaval Patel5, Martha Quezado6, Electron Kebebew5 and Deborah P. Merke1
1National Institutes of Health, Bethesda, MD, 2NIH-NICHD, 3NIH -Clinical Center, Bethesda, 4Veterans Affairs Medical Center, Washington, DC, 5National Cancer Institute, NIH, Bethesda, MD, 6NIH- National Cancer Institute, Bethesda, MD
Background:Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency has a wide spectrum of phenotypic presentations based on the degree of residual enzyme activity. Poorly controlled CAH patients develop adrenal hyperplasia with nodularity from chronic trophic effects of ACTH and may develop adrenal myelolipoma.

Case:29 y/o Female was referred for evaluation of Left (L) adrenal mass and chronic abdominal pain.

Past history: Ambiguous genitalia at birth, hirsutism, primary amenorrhea and recurrent UTI’s. She received prednisone from age 6-16 for bone age advancement but was unaware of her diagnosis. Medication: Vicodin q6hrs for pain. Family history: non-contributory, mid-parental height 160 cm.

Physical examination: Height 134 cm(<3%ile),Weight 68.5 kg, BMI 38 kg/m2, BP 143/94mm Hg. Generalized obesity. Abdomen: soft, tenderness in L lower quadrant and flanks. Tanner II breasts, Tanner V pubic hair. Clitoromegaly (clitoral index 160mm2), Ferriman-Gallawey score 13.

Laboratory tests: 6AM: Cortisol 3.8 mcg/dL(5-25), ACTH 458 pg/mL (0-46), testosterone 260 ng/dL(8-60), 17-hydroxyprogesterone 17,900 ng/dL (<285), plasma renin activity:3.9 ng/mL/hr(0.6-4.3), Na: 139 mg/dL(135-144) and K: 3.9 mg/dL(3.3- 5.1).

Pelvic ultrasound: prepubertal uterus and ovaries.

Adrenal CT: Lobulated, enhanced L adrenal mass of 10x7cm compressing the L kidney.Upper portion with lower density suggestive of fat (-64 Hounsfield units (HU)). Right(R) adrenal: enlarged with a 4x5 cm low density mass.

 18 Fluorodeoxyglucose(FDG) Positron Emission Tomography (PET)-CT:   L adrenal:Large bilobed mass. Upper portion lipid containing(-35HU), solid lower portion hypermetabolic, maximal standardized uptake value (SUVmax) 28.7. R adrenal:Enlarged, hypermetabolic, SUV max 8.74 with a lipid centered nodule (-81 HU).

Pathology post L adrenalectomy:  Well circumscribed lesion composed of mature adipose tissue and hematopoietic precursor cells consistent with a myelolipoma, with areas of myxoid degeneration. Diffusely hyperplastic adrenal cortex with nodules of heavily pigmented adrenal cortical cells.

Conclusions: Untreated simple virilizing CAH results in multiple adverse outcomes including lack of pubertal development, short stature and tumor formation. Although myelolipomas are benign hormonally inactive tumors, they can cause chronic abdominal pain and, unlike other benign tumors, can demonstrate increased uptake with 18FDG corresponding to the adenomatous and hematopoietic components.

Disclosure: DPM: Clinical Researcher, Diurnal. Nothing to Disclose: AM, AE, CV, CMM, NAA, DP, MQ, EK

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

Sources of Research Support: This research was supported by the Intramural Research Program at the National Institutes of Health (NIH), Bethesda, Maryland