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Androgen receptor absent — Clinical Guidelines

Overview

Androgen receptor absence or severe androgen excess in women can indicate underlying conditions such as polycystic ovary syndrome (PCOS), adrenal or ovarian neoplasms, genetic disorders, or severe insulin resistance syndromes 1. These conditions manifest through symptoms like hirsutism, acne, and alopecia, with varying prevalence across demographics 2 3.

Diagnosis

Clinical Assessment: Evaluate for signs of hyperandrogenism including hirsutism, acne, and alopecia 2 3.

Biochemical Workup: Measure dehydroepiandrosterone sulfate (DHEAS), testosterone, androstenedione, prolactin, FSH, and LH 9.

Dynamic Testing: Dexamethasone suppression test to determine the source of androgen excess 9.

Imaging: Consider imaging studies if neoplasms are suspected 1.

Sebutape Technique: Monitor sebum excretion as a non-invasive marker of androgen-dependent disorders 6.

Serum Markers: Evaluate 3α, 17β-androstanediol-glucuronide (Adiol-G) for potential diagnostic utility 7.

Management

First-Line Treatments:

- Androgen Receptor Blockers: Spironolactone 8. - Hormonal Therapy: Estrogen therapy 8. - Glucocorticoids: Dexamethasone for androgen suppression 8.

Adjunctive Treatments:

- Combined Oral Contraceptives (COCs) with antiandrogenic progestogens (e.g., chlormadinone acetate, cyproterone acetate) 5. - Antiandrogens: Progestogens with antiandrogenic properties to block androgen receptors and reduce 5α-reductase activity 5.

Special Populations

Pregnancy: Specific management guidelines for androgen excess during pregnancy are not detailed in the provided abstracts 8.

Pediatrics: Prevalence and management in pediatric populations are not extensively covered 2 3.

Elderly: Age-related variations in symptoms (e.g., hirsutism decreasing, hair loss increasing) noted but specific management strategies not detailed 2.

Comorbidities: Management considerations for comorbidities like insulin resistance are suggested but not extensively outlined 1.

Key Recommendations

Conduct a comprehensive clinical assessment and biochemical workup including DHEAS, testosterone, androstenedione, and dynamic testing with dexamethasone suppression for severe androgen excess 9 (Evidence: Moderate).

Utilize antiandrogen therapies such as spironolactone and combined oral contraceptives with antiandrogenic progestogens for symptom management 8 5 (Evidence: Moderate).

Consider imaging studies when neoplasms are suspected in the differential diagnosis 1 (Evidence: Expert opinion).

References

1 Elhassan YS, Hawley JM, Cussen L, Abbara A, Clarke SA, Kempegowda P et al.. Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women. Clinical endocrinology 2025. link 2 Wolf AT, Wang Z, Onnela JP, Baird DD, Jukic AMZ, Curry CL et al.. Signs of Potential Androgen Excess Across the Lifespan in a US-based Digital Cohort Study. The Journal of clinical endocrinology and metabolism 2025. link 3 Carmina E, Rosato F, Jannì A, Rizzo M, Longo RA. Extensive clinical experience: relative prevalence of different androgen excess disorders in 950 women referred because of clinical hyperandrogenism. The Journal of clinical endocrinology and metabolism 2006. link 4 Brown JT. Anabolic steroids: what should the emergency physician know?. Emergency medicine clinics of North America 2005. link 5 Raudrant D, Rabe T. Progestogens with antiandrogenic properties. Drugs 2003. link 6 Piérard G, Piérard-Franchimont C. The Sebutape technique for monitoring androgen dependent disorders. The European journal of medicine 1992. link 7 Vogt C, Dericks-Tan JS, Kuhl H, Taubert HD. Is 3 alpha, 17 beta-androstanediol-glucuronide a diagnostic marker in women with androgenic manifestations?. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 1992. link 8 Redmond GP, Bergfeld WF. Treatment of androgenic disorders in women: acne, hirsutism, and alopecia. Cleveland Clinic journal of medicine 1990. link 9 Redmond GP, Bergfeld WF. Diagnostic approach to androgen disorders in women: acne, hirsutism, and alopecia. Cleveland Clinic journal of medicine 1990. link

Androgen receptor absent