Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Steroid 5 alpha-reductase 2 deficiency

J D Wilson1, J E Griffin, D W Russell

  • 1Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235.

Endocrine Reviews
|October 1, 1993
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Peripheral inflammatory cytokines and motor symptoms in persons with Parkinson's disease.

Brain, behavior, & immunity - health·2022
Same author

The validity of surface EMG of extra-diaphragmatic muscles in assessing respiratory responses during mechanical ventilation: A systematic review.

Pulmonology·2020
Same author

Benzyloxycarbonyl-proline-prolinal (ZPP): Dual complementary roles for neutrophil inhibition.

Biochemical and biophysical research communications·2019
Same author

Narrative approach in understanding the drivers for resilience of military combat medics.

Journal of the Royal Army Medical Corps·2017
Same author

Mitochondria-focused gene expression profile reveals common pathways and CPT1B dysregulation in both rodent stress model and human subjects with PTSD.

Translational psychiatry·2015
Same author

Comparative analysis of phytochrome-mediated growth responses in internodes of dwarf and tall pea plants.

Planta·2014
Same journal

Sex Hormones & Exercise in the Musculoskeletal System: From Signaling to Structure and Function.

Endocrine reviews·2026
Same journal

DAX-1 in sex determination and gonadal development: revisiting the anti-testis hypothesis.

Endocrine reviews·2026
Same journal

Regulators of Appetite in Mammals - Old and New players.

Endocrine reviews·2026
Same journal

Endometriosis-associated Pain: Mechanism, Neuroimmune Signature, and Translational Precision Strategies.

Endocrine reviews·2026
Same journal

Nuclear Receptors Shape Sepsis Pathophysiology.

Endocrine reviews·2026
Same journal

Beyond aldosterone and renin: emerging biomarkers for diagnosing and subtyping primary aldosteronism.

Endocrine reviews·2026
See all related articles

5 alpha-reductase deficiency, caused by steroid 5 alpha-reductase 2 gene mutations, leads to human intersex. Further research is needed to understand its variable manifestations and potential roles in other conditions.

Area of Science:

  • Endocrinology
  • Human Genetics
  • Molecular Biology

Background:

  • Impairment of dihydrotestosterone formation causes a rare form of human intersex.
  • Significant advancements have been made in understanding the genetics and endocrinology of this condition over the past 20 years.

Purpose of the Study:

  • To review the accumulated knowledge on 5 alpha-reductase deficiency.
  • To identify unresolved questions and future research directions regarding 5 alpha-reductase's role in human development and disease.

Main Methods:

  • Review of genetic, endocrinological, and phenotypic data related to 5 alpha-reductase deficiency.
  • Cloning of cDNAs encoding two 5 alpha-reductase genes.
  • Documentation of mutations in the steroid 5 alpha-reductase 2 gene.

Related Experiment Videos

Main Results:

  • Mutations in the steroid 5 alpha-reductase 2 gene are confirmed as the cause of 5 alpha-reductase deficiency.
  • The cloning of cDNAs for two 5 alpha-reductase genes has been achieved.
  • Variability in phenotypic manifestations remains a complex issue, possibly linked to steroid 5 alpha-reductase 1 expression or testosterone effects.

Conclusions:

  • While the genetic basis of 5 alpha-reductase deficiency is established, its variable clinical presentations require further investigation.
  • Future research should explore the role of 5 alpha-reductase 2 defects in sporadic hypospadias, its function in women, and the link between androgen action and gender behavior.