5-Alpha-Reductase Deficiency Medication

  • Author: Jill E Emerick, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Jul 29, 2010
 

Medication Summary

Because of recent data, reconsidering the past policies of raising children with 46,XY, such as those with 5-alpha-reductase type 2 deficiency (5-ARD) with ambiguous genitalia and small phalli as females may be appropriate.

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Hormone therapy

Class Summary

Some males with 5-alpha-reductase type 2 deficiency respond with an increase in penile size when 2% dihydrotestosterone (DHT) cream is applied.

Children reared as girls require estrogen replacement therapy in adolescence. Progestins are not required due to the absence of a uterus.

Dihydrotestosterone, DHT cream 2%

 

Promotes and maintains secondary sex characteristics in androgen-deficient males.

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Estrogens, conjugated (Premarin)

 

Induces the synthesis of DNA, RNA, and various proteins in target tissues. Promotes development of secondary sex characteristics.

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Ethinyl estradiol (Estinyl)

 

Induces synthesis of DNA, RNA, and various proteins in target tissues. Promotes development of secondary sex characteristics.

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testosterone enanthate or cypionate (Delatestryl)

 

Promotes and maintains secondary sex characteristics in males with androgen deficiency. Limited data suggest that testosterone therapy may increase penile shaft length and circumference, increase erectile potency and ejaculatory volume, increase facial hair and muscularity, and improve a sense of well-being in patients with 5-alpha-reductase deficiency. The goal of adult dosing is to get the DHT level into the normal range.

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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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