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

[Classical and incomplete androgen insensitivity syndromes]

J Baron1

  • 1Instytutu Ginecologii i Połoznictwa AM, Poznaniu.

Ginekologia Polska
|July 1, 1994
PubMed
Summary

Androgen insensitivity syndrome (AIS) in genotypic males presents with normal male testosterone levels. This indicates target cell androgen receptor gene mutations cause AIS, necessitating delayed gonad removal until sexual maturity.

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

Homemade pericardial bifurcated graft for Q fever-infected abdominal aortic aneurysm open repair: a case report.

Frontiers in cardiovascular medicine·2024
Same author

When echo gets in the way: physiological factors affecting Doppler data.

Echo research and practice·2020
Same author

Dr. Baron's Pathological Opinions.

The London medical and physical journal·2018
Same author

JAK1/3 inhibition preserves epidermal morphology in full-thickness 3D skin models of atopic dermatitis and psoriasis.

Journal of the European Academy of Dermatology and Venereology : JEADV·2018
Same author

Sliding sign in third-trimester sonographic evaluation of intra-abdominal adhesions in women undergoing repeat Cesarean section: a novel technique.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2018
Same author

Predicting of ultrafiltration performances by advanced data analysis.

Water research·2017

Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Context:

  • Androgen insensitivity syndrome (AIS) is a disorder where individuals with a male genotype (XY) are resistant to androgens.
  • This study investigates the clinical and molecular characteristics of AIS in 41 patients.

Purpose:

  • To characterize the phenotypic spectrum of classical and incomplete AIS.
  • To correlate clinical findings with testosterone levels and androgen receptor gene mutations.

Summary:

  • Phenotypically female, genotypically male patients with AIS exhibit normal plasma testosterone levels (6.4 +/- 1.6 mg/ml).
  • Classical AIS (80.5%) features absent pubic hair, normal breast development (97%), and blind vaginas (97%).
  • Incomplete AIS (19.5%) presents with variable breast development, pubic hair, vaginal absence or length, inguinal hernias (75%), and clitoral hypertrophy (62.5%).

Impact:

  • Findings confirm that AIS is primarily caused by target cell insensitivity to androgens, likely due to androgen receptor gene mutations.
  • The study suggests avoiding gonadectomy before full sexual maturity to prevent complications.
  • Distinguishing between classical and incomplete AIS is crucial for surgical management, particularly for inguinal hernias and vaginal reconstruction.

Related Experiment Videos