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Complete androgen insensitivity syndrome — Clinical Guidelines

Overview

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder characterized by the complete resistance of XY individuals to masculinizing effects of androgens due to mutations in the androgen receptor (AR) gene, leading to a female phenotype despite normal or elevated testosterone levels 1 3 7.

Diagnosis

Genetic Testing: Identification of mutations in the AR gene through DNA sequencing and single strand conformation polymorphism (SSCP) analysis 1 2 7 8.

Clinical Presentation: Female external genitalia, undescended testes, and lack of secondary male characteristics 1 3.

Biochemical Assays: Elevated serum testosterone levels with normal or elevated luteinizing hormone (LH) and low follicle-stimulating hormone (FSH) levels 1 3.

Grading: Phenotypic variations range from complete female to undervirilized male; molecular analysis helps in grading severity 3 5 6.

Management

Surgical Intervention: Early surgical correction of ambiguous genitalia and orchiopexy if testes are palpable 3.

Hormonal Therapy: Typically not required due to normal or elevated endogenous testosterone levels 3.

Psychosocial Support: Comprehensive psychological and social support to address gender identity and psychological well-being 3.

Bone Health Monitoring: Regular assessment of bone mineral density due to increased risk of osteopenia 4.

Special Populations

Pediatrics: Early diagnosis and surgical intervention are crucial to prevent psychological and physical complications 3.

Comorbidities: Increased risk of osteopenia; bone health monitoring recommended 4.

Key Recommendations

Perform genetic testing via DNA sequencing and SSCP analysis to identify AR gene mutations for definitive diagnosis (Evidence: Strong 1 7).

Offer early surgical correction of ambiguous genitalia and orchiopexy if testes are present to prevent long-term complications (Evidence: Moderate 3).

Regularly monitor bone mineral density in patients due to increased risk of osteopenia (Evidence: Moderate 4).

Provide comprehensive psychosocial support to address gender identity and psychological needs (Evidence: Expert opinion 3).

References

1 Choong CS, Sturm MJ, Strophair JA, McCulloch RK, Hurley DM. Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome. Clinical endocrinology 1997. link 2 Imasaki K, Okabe T, Murakami H, Tanaka Y, Haji M, Takayanagi R et al.. Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. Molecular and cellular endocrinology 1996. link03812-9) 3 Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K. The clinical and molecular spectrum of androgen insensitivity syndromes. American journal of medical genetics 1996. link1096-8628(19960503)63:1<218::AID-AJMG38>3.0.CO;2-P) 4 Soule SG, Conway G, Prelevic GM, Prentice M, Ginsburg J, Jacobs HS. Osteopenia as a feature of the androgen insensitivity syndrome. Clinical endocrinology 1995. link 5 De Bellis A, Quigley CA, Marschke KB, el-Awady MK, Lane MV, Smith EP et al.. Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. The Journal of clinical endocrinology and metabolism 1994. link 6 Batch JA, Davies HR, Evans BA, Hughes IA, Patterson MN. Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Archives of disease in childhood 1993. link 7 Lumbroso S, Lobaccaro JM, Belon C, Martin D, Chaussain JL, Sultan C. A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. Fertility and sterility 1993. link56281-5) 8 Hiort O, Huang Q, Sinnecker GH, Sadeghi-Nejad A, Kruse K, Wolfe HJ et al.. Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. The Journal of clinical endocrinology and metabolism 1993. link 9 Hipkin LJ. The XY female in sport: the controversy continues. British journal of sports medicine 1993. link 10 Lobaccaro JM, Belon C, Ruiz-Pacheco R, Heinrichs C, Van Regemorter N, Terraza A et al.. Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome. Annales de genetique 1991. link 11 Pereira F, Belsham D, Duerksen K, Rosenmann E, Kaufman M, Pinsky L et al.. The 56 kDa androgen-binding protein in human genital skin fibroblasts: its relation to the human androgen receptor. Molecular and cellular endocrinology 1990. link90193-c) 12 Belsham DD, Rosenmann E, Pereira FA, Williams SG, Turney MK, Kovacs WJ et al.. The 56 kDa protein of human genital skin fibroblasts is identical to that radiolabelled by [3H]dihydrotestosterone 17 beta-bromoacetate. Journal of steroid biochemistry 1989. link90328-2) 13 Brown TR, Migeon CJ. Androgen binding in nuclear matrix of human genital skin fibroblasts from patients with androgen insensitivity syndrome. The Journal of clinical endocrinology and metabolism 1986. link

Complete androgen insensitivity syndrome