eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Androgen Insensitivity Syndrome: Follow-up

Author: Bruce E Wilson, MD, Associate Professor, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine at East Lansing
Contributor Information and Disclosures

Updated: Jun 23, 2009

Follow-up

Further Inpatient Care

  • Patients with androgen insensitivity syndrome (AIS) require further inpatient care only for postoperative management.

Further Outpatient Care

  • Outpatient follow-up medical care for patients with androgen insensitivity syndrome focuses on hormone replacement therapy (HRT). Appropriate continued treatment with estrogen is required to prevent osteoporosis. Perform assessments of bone mineral density every few years to ensure treatment is adequate.
  • Many patients may require ongoing long-term psychotherapy to resolve psychosexual identity issues raised by the diagnosis of androgen insensitivity syndrome. Therapy should be provided on a continuing or recurrent basis for the patient and family, beginning at the time of diagnosis. A helpful resource is the Handbook for Parents written by the Consortium on the Management of Disorders of Sexual Development.7

Deterrence/Prevention

  • Androgen insensitivity syndrome prevention revolves around the identification of women who may carry the gene.
  • Provide appropriate nondirective counseling, including information about the condition and the woman's risk of having an affected child, so that she can make an informed decision about whether to have children.

Complications

  • Osteoporosis and psychological sequelae are the 2 major complications of androgen insensitivity syndrome, and their risk can be decreased significantly by appropriate therapeutic intervention. These interventions involve HRT with estrogen to prevent osteoporosis and early and continuing involvement with an appropriate mental health professional for psychological and emotional support.

Prognosis

  • The medical and psychological prognosis for a woman with androgen insensitivity syndrome is excellent if she has appropriate support and counseling.

Patient Education

  • Educate patients and families about the full nature of androgen insensitivity syndrome. Information for children can be provided in an age-appropriate format, taking care to be as accurate and understandable as possible.
  • As the child matures, education should include information about issues such as vaginal hypoplasia and osteoporosis. Encourage patient participation in decisions about medical and surgical alternatives.
  • Patient-oriented educational materials are available through the AISSG Web site.8

Miscellaneous

Medicolegal Pitfalls

  • Legal challenges to the management of patients with complete androgen insensitivity syndrome (CAIS) have not been a problem to date, and such management appears to have little likelihood of becoming a legal problem. However, in partial androgen insensitivity syndrome (PAIS) cases, intersex activists are pursuing the possibility of suing physicians who perform early genitoplasty. Legal challenges appear likely in cases involving demonstrable loss of sexual function or in which the adult gender identity conflicts with the surgically created sex. Physicians providing care for children with partial androgen insensitivity syndrome and genital ambiguity should be aware of this possibility, although enlightened management should lead to outcomes that make lawsuits unlikely.
  • In March 2006, androgen insensitivity syndrome (AIS) was given its own IDC code: 259.5. This change seems small but represents recognition by the medical community of the unique blend of issues that patients with androgen insensitivity syndrome represent.

Special Concerns

  • In addition to osteoporosis and gender identity issues, women with AIS consistently mention a further concern about their medical care. These women often describe medical visits as traumatic experiences; consequently, they often avoid medical care, including HRT. These issues relate to the relative rarity of their condition as follows:
    • First, these women find that physicians and staff frequently are unfamiliar with AIS, resulting in repeated questioning about the nature of their condition that start at the registration desk. Many of these women feel frustrated and embarrassed by being required to explain the diagnosis to a stranger in such a public place as the registration desk in an office waiting room, only to have to explain it again to the nurse and sometimes yet again to the physician.
    • Second, patients who are seen in a teaching facility often find multiple students or residents participating in their visit, particularly during the genital examination. Group examinations become a problem for the teaching environment because they increase the woman's feeling of being "part of a freak show" and create attendant embarrassment. While students need to be exposed to these conditions and learn about them, the patient's feelings and sense of privacy, even in childhood, must be protected.
  • A healthcare provider who is an AISSG member suggests (1) involving only a single trainee in any visit, (2) obtaining the patient's permission for the trainee's involvement before the start of the visit, and (3) giving the trainee time to get to know the patient as a person before any examination, a process that can be combined with obtaining the patient's history. At all costs, avoid group showings of the patient's genitalia, regardless of the patient's age.
 


More on Androgen Insensitivity Syndrome

Overview: Androgen Insensitivity Syndrome
Differential Diagnoses & Workup: Androgen Insensitivity Syndrome
Treatment & Medication: Androgen Insensitivity Syndrome
Follow-up: Androgen Insensitivity Syndrome
Multimedia: Androgen Insensitivity Syndrome
References
Further Reading
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Further Reading

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Keywords

androgen insensitivity syndrome, AIS, complete androgen insensitivity syndrome, CAIS, partial androgen insensitivity syndrome, PAIS, testicular feminization, androgen receptor deficiency, androgen resistance syndrome, feminizing testes syndrome, Reifenstein syndrome, Morris syndrome, Goldberg-Maxwell syndrome, hypospadias, clitorimegaly, diminished penile size, gonadoblastoma, hernias, acne, clitoral enlargement, masculinization, treatment, diagnosis

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Contributor Information and Disclosures

Author

Bruce E Wilson, MD, Associate Professor, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine at East Lansing
Bruce E Wilson, MD is a member of the following medical societies: American Diabetes Association, Association of Clinical Scientists, Lawson-Wilkins Pediatric Endocrine Society, and New York Academy of Sciences
Disclosure: Nothing to disclose.

Medical Editor

Arlan L Rosenbloom, MD, Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology
Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Lynne Lipton Levitsky, MD, Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor, Department of Pediatrics, Harvard University Medical School
Lynne Lipton Levitsky, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Pediatric Society, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Pfizer Grant/research funds P.I.; Tercica Grant/research funds PI, also occasional consultant

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD, Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital
Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research
Disclosure: Genentech, Inc. Honoraria Speaking and teaching; Pfizer, Inc. Honoraria Consulting

 
 
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