5-Alpha-Reductase Deficiency Follow-up

Updated: Nov 11, 2016
  • Author: Anna H Isfort, MD; Chief Editor: Robert P Hoffman, MD  more...
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Follow-up

Further Outpatient Care

Outpatient care may be fairly regular during the first 2 years of life during the education and decision phase of gender assignment. Subsequent to this decision, outpatient care generally revolves around mental health support until the time of puberty. Even if the family adjusts well, providing ongoing support to answer questions as they arise is important. As noted above, these answers should be medically accurate and appropriate to the child's level of understanding (see Consultations).

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Further Inpatient Care

After the newborn period, further inpatient care of 5-alpha-reductase type 2 deficiency (5-ARD) is only necessary at the time of surgery.

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Deterrence/Prevention

Currently, the only methods of prevention if both parents are carriers of the 5-alpha-reductase type 2 gene mutation are avoidance of future pregnancies or selective termination of affected pregnancies detected by prenatal mutation analysis. The latter presents significant ethical issues.

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Complications

Psychosexual dysfunction may occur in the presence of genital malformation with or without surgical intervention. Appropriately timed consultations for patient and family to mental health professionals experienced in working with patients with DSD is important.

A mental health professional, preferably a child psychiatrist or pediatric psychologist, should be available to the patient and family due to the emotional loading of some of these issues. In addition to emotional support, they can help facilitate communication between the medical team, the patient, and the family.

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Patient Education

Questions about gender and sexuality are extremely anxiety provoking and emotionally upsetting. Ensuring that the family feels informed and involved in the entire decision-making process is important. The family should leave the first session with a sense that all members of the team are in place to support them and should be provided the contact information that allows them to readily access any and all members of the treatment team.

Counseling is a lifelong process because of the variability of family dynamics, childhood development, and unforeseeable developments in medical and surgical treatment options. As the child grows, they must also feel a sense of comfort in accessing the team members to discuss age-appropriate developmental concerns to ultimately include intimacy with partners, sexual function and satisfaction, and potential fertility.

Education is a key part of the care plan for individuals with 5-alpha-reductase type 2 deficiency. Providing patients (and their families) with accurate, complete, and unbiased information about the diagnosis and the treatment options is an absolute requirement. This approach should include an honest discussion on the unpredictability of choosing gender identity and gender satisfaction.

Currently no group is specific to individuals with 5-alpha-reductase type 2 deficiency, but the androgen insensitivity syndrome (AIS) support group may be a reasonable surrogate. It has branches in several countries and maintains an active web site (see Androgen Insensitivity Syndrome Support Group: www.aissg.org). Members have made the group available to individuals with 46,XY DSD other than AIS.

Lastly, several Web sites may provide further information, including the following:

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