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Complete androgen insensitivity syndrome (CAIS) and eating disorders: a case report

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Abstract

Androgen Insensitivity Syndrome represents a disorder due to partial (PAIS), mild (MAIS) or complete (CAIS) resistance to androgens caused by X-linked mutations of androgen receptor gene. CAIS is characterized by a female phenotype and XY karyotype. Cases of patients with CAIS and associated obesity have been reported, while to date, there are no reports about the onset of an Eating Disorder (ED) in the carriers of this condition. We describe the case of a patient affected by CAIS and Anorexia Nervosa (AN) restricting type later shifted to Bulimia Nervosa (BN). A previous overweight was present since childhood, contributing to severe Body Dissatisfaction (BD) and consequent restrictive behaviour in adolescence. Beyond its peculiarity, this case highlights also the importance of diagnosing and monitoring the overweight and BD in CAIS patients to avoid the onset of an ED.

Level of Evidence: V, descriptive study.

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References

  1. Morris JM (1953) The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65:1192–1211

    Article  CAS  Google Scholar 

  2. Gottlieb B, Trifiro MA (2017) Androgen Insensitivity Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al. (ed). GeneReviews® [Internet]. Seattle (WA) 1993–2020

  3. Oakes MB, Eyvazzadeh AD, Quint E, Smith YR (2008) Complete androgen insensitivity syndrome – a review. J Pediatr Adolesc Gynecol 21(6):305–310

    Article  Google Scholar 

  4. Lanciotti L et al (2019) Different clinical presentations and management in complete androgen insensitivity syndrome (CAIS). Int J Environ Res Public Health 16:1268. https://doi.org/10.3390/ijerph16071268

    Article  CAS  PubMed Central  Google Scholar 

  5. Petroli RJ, Hiort O et al (2018) Functional impact of novel androgen receptor mutations on the clinical manifestation of androgen insensitivity syndrome. Sex Dev 11:238–247

    Article  Google Scholar 

  6. de Vries AL, Doreleijers TA, Cohen-Kettenis PT (2007) Disorders of sex development and gender identity outcome in adolescence and adulthood: understanding gender identity development and its clinical implications. Pediatr Endocrinol Rev 4(4):343–351

    PubMed  Google Scholar 

  7. Bermúdez de la Vega JA, Fernández-Cancio M, Bernal S, Audí L (2015) Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. Sex Dev 9(2):75–79

    Article  Google Scholar 

  8. Wisniewski AB et al (2000) Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab 85(8):2664–2669

    CAS  PubMed  Google Scholar 

  9. Rastogi R, Rome ES (2020) Restrictive eating disorders in previously overweight adolescents and young adults. Clev Clin J Med 87(3):165–171

    Article  Google Scholar 

  10. Garner DM (1991) EDI-2. Eating disorder inventory-2. Professional manual. https://doi.org/10.1007/bf03327738

  11. Beck AT et al (1961) An inventory for measuring depression. Arch Gen Psychiatry 4(6):561–571

    Article  CAS  Google Scholar 

  12. Gormally J, Black S, Daston S, Rardin D (1982) The assessment of binge eating severity among obese persons. Addict Behav 7(1):47–55

    Article  CAS  Google Scholar 

  13. Symptom Checklist-90-Revised". Pearson: Clinical Psychology. Pearson Education, Inc. Archived from the original on 13 May 2016

  14. Cuzzolaro M, Vetrone G, Marano G, Garfinkel PE (2006) The body uneasiness test (BUT): development and validation of a new body image assessment scale. Eat Weight Disord-St 11:1–13

    Article  CAS  Google Scholar 

  15. Yang P, Liu X, Gao J, Qu S, Zhang M (2018) Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report. Medicine 97(33):e11353. https://doi.org/10.1097/MD.0000000000011353

    Article  PubMed  PubMed Central  Google Scholar 

  16. Dati E et al (2009) Body composition and metabolic profile in women with complete androgen insensitivity syndrome. Sex Dev 3:188–193

    Article  CAS  Google Scholar 

  17. Batista RL (2018) Androgen insensitivity syndrome: a review. Arch Endocrinol Metab 62(2):227–235

    Article  Google Scholar 

  18. Procopio M, Marriott P (2007) Intrauterine hormonal environment and risk of developing Anorexia Nervosa. Arch Gen Psychiatry 64(12):1402–1407

    Article  Google Scholar 

  19. Culbert KM et al (2013) The emergence of sex differences in risk for disordered eating attitudes during puberty: a role for prenatal testosterone exposure. J Abnorm Psychol 122:420–432

    Article  Google Scholar 

  20. Lombardo MV et al (2012) Fetal programming effects of testosterone on the reward system and behavioral approach tendencies in humans. Biol Psychiatry 72:839–847

    Article  CAS  Google Scholar 

  21. Kopsida E et al (2009) The Role of the Y Chromosome in Brain Function. J neuroendocrinol 2:20–30. https://doi.org/10.2174/1876528900902010020

    Article  CAS  Google Scholar 

  22. Engberg H et al (2017) Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. J Psychosom Res 101:122–127

    Article  Google Scholar 

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Correspondence to E. Manzato.

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Manzato, E., Gualandi, M. & Roncarati, E. Complete androgen insensitivity syndrome (CAIS) and eating disorders: a case report. Eat Weight Disord 26, 2421–2426 (2021). https://doi.org/10.1007/s40519-020-01069-1

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