5-Alpha-Reductase Deficiency Follow-up

Author: Jill E Emerick, MD; Chief Editor: Stephen Kemp, MD, PhD more...

Updated: Jul 29, 2010

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Further Inpatient Care
Further Outpatient Care
Deterrence/Prevention
Complications
Patient Education
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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.

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).

Deterrence/Prevention

Currently, the only methods of prevention are avoidance of future pregnancies if both parents are carriers or via selective termination of affected pregnancies detected by prenatal mutation analysis. The latter presents significant ethical issues.

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 this type of problem 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.

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 life-long 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). 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:

Contributor Information and Disclosures

Author

Jill E Emerick, MD Fellow, Pediatric Endocrinology, Uniformed Services University of the Health Sciences, Pediatrics Department, Walter Reed Army Medical Center/National Naval Medical Center

Jill E Emerick, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Noelle Summers Larson, MD Fellow, Pediatric Endocrinology, Uniformed Services University of the Health Sciences, Pediatrics Department, Walter Reed Army Medical Center/National Naval Medical Center

Noelle Summers Larson, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Medical Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Andrew J Bauer, MD Program Director, Pediatric Endocrinology Fellowship, Uniformed Services University of the Health Sciences

Andrew J Bauer, MD is a member of the following medical societies: American Academy of Pediatrics, American Thyroid Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Phyllis W Speiser, MD Chief, Division of Pediatric Endocrinology, The Children's Hospital, North Shore LIJ Health System; Professor of Pediatrics, New York University School of Medicine

Phyllis W Speiser, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Barry B Bercu, MD Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Federation for Clinical Research, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Lawson-Wilkins Pediatric Endocrine Society, Pituitary Society, Society for Pediatric Research, Society for the Study of Reproduction, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

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: Nothing to disclose.

References

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Biochemical effects of 5-alpha-reductase type 2 deficiency in testosterone biosynthesis. Typically levels of testosterone are elevated, whereas levels of dihydrotestosterone (DHT) are significantly decreased, leading to male undervirilization.

Prader scale reflecting the degree of virilization of the external genitalia. The internal genitalia reflect the changes in the urogenital sinus in response to the presence or absence of mullerian inhibiting hormone (MIH)

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