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5-Alpha-Reductase Deficiency Medication

  • Author: Jill E Emerick, MD; Chief Editor: Stephen Kemp, MD, PhD  more...
 
Updated: May 29, 2014
 

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. Maximum penile enlargement is achieved after 6 months of treatment.

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.

Estrogens, conjugated (Premarin)

 

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

Ethinyl estradiol (Estinyl)

 

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

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 Staff Pediatric Endocrinologist, Walter Reed National Military Medical Center, Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences

Jill E Emerick, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Andrew J Bauer, MD Director, The Thyroid Center, Division of Endocrinology, The Children's Hospital of Philadelphia

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

Disclosure: Nothing to disclose.

Noelle Summers Larson, MD Fellow in Pediatric Endocrinology, Uniformed Services University of the Health Sciences; Attending Physician, Department of Pediatrics, 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, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Ruth S Faircloth, MD Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences; Fellow in Pediatric Endocrinology, Walter Reed National Military Medical Center

Ruth S Faircloth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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 Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Society for Pediatric Research, Southern Society for Pediatric Research, Society for the Study of Reproduction, American Federation for Clinical Research, Pituitary Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD Former Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, 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, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Phyllis W Speiser, MD Chief, Division of Pediatric Endocrinology, Steven and Alexandra Cohen Children's Medical Center of New York; Professor of Pediatrics, Hofstra-North Shore LIJ School of Medicine at Hofstra University

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

Disclosure: Nothing to disclose.

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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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