Reproductive Endocrinology

SAT-157 - When Imaging and Hormones Disagree: A Case of Isolated DHEA-S Excess

Saturday, June 13, 2026

9:30 AM - 4:30 PM CT

Location: ENDOExpo; Poster Floor

Abstract Poster Presenter(s)

AS

Ashmita Shrestha, MD

Medstar Health
Baltimore, Maryland, United States

Co-Author(s)

MC

Manita Chapagain, MD

MedStar Health Georgetown University (Baltimore) Endocrine Fellowship Program
Baltimore, Maryland, United States

Senior Author/Primary Investigator(s)

PS

Pamela Schroeder, MD, PhD

Union Mem Hospital
Baltimore, Maryland, United States

Disclosure(s):

Patrick Mooney, MD: No financial relationships to disclose

Background:

Markedly elevated dehydroepiandrosterone sulfate (DHEA-S) levels in women raise concern for androgen-producing adrenal tumors, including adrenocortical carcinoma (ACC). However, the differential diagnosis of elevated DHEA-S is broad, including polycystic ovarian syndrome, congenital adrenal hyperplasia, adrenal adenomas, ACTH-dependent Cushing’s disease, medication effects, or rare genetic defects in steroid metabolism or transport. Distinguishing malignant from nonmalignant causes remains a diagnostic challenge.

Case summary:

A 21-year-old woman was evaluated for fatigue and mild hyperandrogenic symptoms. She reported regular menses occurring every 20 days and denied rapid onset virilization. Examination revealed mild acne and minimal hirsutism (Ferriman-Gallwey score 3).
Laboratory testing demonstrated elevated DHEA-S (824 mcg/dL; repeat 718 mcg/dL; normal level: 110-431.7 mcg/dL), IGF-1 slightly elevated at 376, and ACTH not suppressed at 34.4. Total and free testosterone, 17-hydroxyprogesterone, prolactin, thyroid function tests, and gonadotropins were normal. Evaluation for Cushing’s syndrome, pheochromocytoma, and primary aldosteronism were negative, including appropriate cortisol suppression following 1-mg overnight dexamethasone suppression testing.
Initial CT imaging suggested a questionable 1.3- cm left adrenal lesion with indeterminate attenuation and absent contrast washout, though visualization was limited by minimal retroperitoneal fat. Subsequent dedicated adrenal MRI did not reveal a definitive adrenal mass, and multidisciplinary review with a radiologist did not confirm a discrete lesion. FDG PET/CT demonstrated normal symmetric adrenal uptake without evidence of metabolically active malignancy.

Conclusion:

This case highlights the difficulty of diagnosing isolated DHEA-S excess when imaging is unrevealing. Beyond common etiologies, several rare genetic disorders can produce isolated DHEA-S elevation without rapid virilization or detectable adrenal lesions, including loss of function mutations in SULT2A1, gain-of-function AKR1C3, POR deficiency, HSD3B2 mutations, and SLCO2B1 transporter variants. These conditions often present with normal ACTH and lack a radiographic mass, mirroring the patient’s profile. Incorporating such genetic possibilities into differential diagnosis and considering targeted genetic testing when biochemical evaluation is inconclusive, can prevent overdiagnosis of adrenal neoplasia and avoid unnecessary invasive interventions.

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