SUN-102 Unraveling the Androgenic Enigma: Non-Classical Congenital Adrenal Hyperplasia vs. Polycystic Ovary Syndrome in a 20-Year-Old Female

Abstract Disclosure: A.J. Zaidi: None. W. Akhter: None. S. Azmat: None. J. Gilden: Novartis Pharmaceuticals. Introduction: Polycystic ovary syndrome (PCOS) and non-classical congenital adrenal hyperplasia (NCCAH) are both common causes of hyperandrogenism in young women. These conditions present with similar clinical features (menstrual irregularities, hirsutism, and acne). Here we present a case of a 20-year-old female with hirsutism, whose presentation prompted further investigation for PCOS and NCCAH. Case Presentation: A 20-year-old Latina female presented for evaluation of hirsutism, by her primary care physician. She noticed increased facial hair since menarche at age 14, with regular menstrual cycles, BMI 27 without weight fluctuations. She had no personal history of thyroid disease or diabetes mellitus (DM) . Family history included increased facial hair in her mother with type 2 DM. Patient’s history of hirsutism, (Ferriman-Gallwey score of 9/36) led to further investigation into possible causes of hyperandrogenism, including NCCAH and PCOS.Laboratory results showed DHEA-S initially elevated at 1328 (normal range: 35–430 µg/dL), and retest 1 month later showed normal levels. FSH: 4.30 IU/L (normal range: 3.5–12 IU/L)LH: 14.14 IU/L (normal range: 2.4–12.6 IU/L) With elevated LH/FSH ratio >3 (normal 1:1), Prolactin: 9.5 ng/mL (normal range: 3–15 ng/mL), Total Testosterone: 29 ng/dL (within normal limits), Free Testosterone: 7.2 ng/dL (mildly elevated, normal range: 0.1–6.0 ng/dL), SHBG: 14.56 nmol/L (low), Hb1C 5.1% (normal), 17-Hydroxyprogesterone (17-OHP): 75 ng/dL(normal range < 280ng/dL in adult female), repeat in 1 month 109 ng/dL (normal), Androstenedione: Elevated at 360 ng/dL but normal at 156 ng/dL on retesting. Pelvis Ultrasound (US) revealed small follicular cysts in both ovaries.The elevated free testosterone, DHEA-S (initially), and androstenedione levels raised suspicion for an androgen-secreting disorder. However, the patient's 17-OHP levels were not elevated, which would typically be expected in NCCAH. Ultimately, the diagnosis of PCOS was made based on clinical, biochemical and imaging findings. The patient did not elect any treatment for hirsutism including spironolactone or laser therapy. She was advised to maintain a healthy lifestyle for long -term health outcomes related to PCOS, including insulin resistance and type 2 DM, given her family history. Conclusion: This case highlights the importance and complexities of a thorough clinical and laboratory evaluation in young women presenting with hyperandrogenism and menstrual irregularities. PCOS remains the most likely diagnosis in the absence of significant virilization or consistent elevation of adrenal hormones such as 17-OHP. Early diagnosis and appropriate management can help improve outcomes and reduce the risk of long-term complications associated with hyperandrogenism, such as metabolic syndrome and infertility. Presentation: Sunday, July 13, 2025

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Journal of the Endocrine Society
Published
2025-10-01
DOI
https://doi.org/10.1210/jendso/bvaf149.2036
Primary Topic
Sexual Differentiation and Disorders
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article
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article

SUN-102 Unraveling the Androgenic Enigma: Non-Classical Congenital Adrenal Hyperplasia vs. Polycystic Ovary Syndrome in a 20-Year-Old Female

Asma Zaidi, Janice L Gilden, Wajeeha Akhter, Shazia Azmat
Journal of the Endocrine Society
Sexual Differentiation and Disorders
article

SUN-102 Unraveling the Androgenic Enigma: Non-Classical Congenital Adrenal Hyperplasia vs. Polycystic Ovary Syndrome in a 20-Year-Old Female

Asma Zaidi, Janice L Gilden, Wajeeha Akhter, Shazia Azmat
article en

Abstract

Abstract Disclosure: A.J. Zaidi: None. W. Akhter: None. S. Azmat: None. J. Gilden: Novartis Pharmaceuticals. Introduction: Polycystic ovary syndrome (PCOS) and non-classical congenital adrenal hyperplasia (NCCAH) are both common causes of hyperandrogenism in young women. These conditions present with similar clinical features (menstrual irregularities, hirsutism, and acne). Here we present a case of a 20-year-old female with hirsutism, whose presentation prompted further investigation for PCOS and NCCAH. Case Presentation: A 20-year-old Latina female presented for evaluation of hirsutism, by her primary care physician. She noticed increased facial hair since menarche at age 14, with regular menstrual cycles, BMI 27 without weight fluctuations. She had no personal history of thyroid disease or diabetes mellitus (DM) . Family history included increased facial hair in her mother with type 2 DM. Patient’s history of hirsutism, (Ferriman-Gallwey score of 9/36) led to further investigation into possible causes of hyperandrogenism, including NCCAH and PCOS.Laboratory results showed DHEA-S initially elevated at 1328 (normal range: 35–430 µg/dL), and retest 1 month later showed normal levels. FSH: 4.30 IU/L (normal range: 3.5–12 IU/L)LH: 14.14 IU/L (normal range: 2.4–12.6 IU/L) With elevated LH/FSH ratio >3 (normal 1:1), Prolactin: 9.5 ng/mL (normal range: 3–15 ng/mL), Total Testosterone: 29 ng/dL (within normal limits), Free Testosterone: 7.2 ng/dL (mildly elevated, normal range: 0.1–6.0 ng/dL), SHBG: 14.56 nmol/L (low), Hb1C 5.1% (normal), 17-Hydroxyprogesterone (17-OHP): 75 ng/dL(normal range < 280ng/dL in adult female), repeat in 1 month 109 ng/dL (normal), Androstenedione: Elevated at 360 ng/dL but normal at 156 ng/dL on retesting. Pelvis Ultrasound (US) revealed small follicular cysts in both ovaries.The elevated free testosterone, DHEA-S (initially), and androstenedione levels raised suspicion for an androgen-secreting disorder. However, the patient's 17-OHP levels were not elevated, which would typically be expected in NCCAH. Ultimately, the diagnosis of PCOS was made based on clinical, biochemical and imaging findings. The patient did not elect any treatment for hirsutism including spironolactone or laser therapy. She was advised to maintain a healthy lifestyle for long -term health outcomes related to PCOS, including insulin resistance and type 2 DM, given her family history. Conclusion: This case highlights the importance and complexities of a thorough clinical and laboratory evaluation in young women presenting with hyperandrogenism and menstrual irregularities. PCOS remains the most likely diagnosis in the absence of significant virilization or consistent elevation of adrenal hormones such as 17-OHP. Early diagnosis and appropriate management can help improve outcomes and reduce the risk of long-term complications associated with hyperandrogenism, such as metabolic syndrome and infertility. Presentation: Sunday, July 13, 2025

Journal of the Endocrine SocietyVol. 9(Supplement_1)
Rosalind Franklin University of Medicine and Science (US)
Openalex Percentile: Top 73%
Sexual Differentiation and Disorders
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