Androgen insensitivity syndrome risk factors

Jump to: navigation, search

Androgen insensitivity syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Androgen insensitivity syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Androgen insensitivity syndrome risk factors On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Androgen insensitivity syndrome risk factors

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Androgen insensitivity syndrome risk factors

CDC on Androgen insensitivity syndrome risk factors

Androgen insensitivity syndrome risk factors in the news

Blogs on Androgen insensitivity syndrome risk factors

Directions to Hospitals Treating Androgen insensitivity syndrome

Risk calculators and risk factors for Androgen insensitivity syndrome risk factors

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]

Overview

The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood. Benign tumors of non-germ-cell origin include sertoli cell adenoma and hamartomas.

Risk Factors

  • The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood.[1]
  • Benign tumors of non-germ-cell origin include Sertoli cell adenoma and hamartomas. [2]
  • Studies have suggested an increased tumor risk of greater than 30% in late adulthood if gonadectomy is not done and a review of the risk of adult women with complete androgen insensitivity syndrome having a gonadal tumor could not be more specific than 0–22%. Specific analyses in large sample groups suggest a germ cell tumor risk as low as 0·8–2%, especially before puberty. [3]
  • Evaluation of Relatives at Risk may help identify affected individuals at an early stage. [3]
    • It is advisable to evaluate the apparently asymptomatic older and younger siblings of a proband in order to identify as early as possible those who would benefit from institution of treatment and preventive measures.
    • For an apparently asymptomatic older or younger sib who has normal external female genitalia and who has not yet undergone menarche, a karyotype can be done first. For those phenotypic females who have a 46,XY karyotype, molecular genetic testing for the known androgen receptor (AR) variant in the family can be pursued next. If the androgen receptor (AR) variant in the family is not known, androgen binding assays could be considered.

References

  1. Hughes IA, Werner R, Bunch T, Hiort O (2012). "Androgen insensitivity syndrome". Semin Reprod Med. 30 (5): 432–42. doi:10.1055/s-0032-1324728. PMID 23044881.
  2. Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012). "Androgen insensitivity syndrome". Lancet. 380 (9851): 1419–28. doi:10.1016/S0140-6736(12)60071-3. PMID 22698698.
  3. 3.0 3.1 Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Ledbetter N, Mefford HC, Smith R, Stephens K, Gottlieb B, Trifiro MA. PMID 20301602. Vancouver style error: initials (help); Missing or empty |title= (help)



Linked-in.jpg