Androgen insensitivity syndrome physical examination

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 physical examination 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 physical examination 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 physical examination
CDC on Androgen insensitivity syndrome physical examination
Androgen insensitivity syndrome physical examination in the news
Blogs on Androgen insensitivity syndrome physical examination
Directions to Hospitals Treating Androgen insensitivity syndrome
Risk calculators and risk factors for Androgen insensitivity syndrome physical examination

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

Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype.

Physical Examination

Following physical examination findings are observed:

• Extragenital abnormalities are absent.
• A pair of nondysplastic testes.
• The presence of short vagina and absence of or rudimentary müllerian structures (i.e., Fallopian tubes, uterus, and cervix).
• Undermasculinization of external genitalia at birth.
• To some extent, impaired virilization is observed at puberty whch includes impaired spermatogenesis and/or somatic virilization.
• In an adolescent female, CAIS (complete androgen insensitivity syndrome) typically presents as primary amenorrhoea and in infancy it presents less commonly with bilateral inguinal/labial swellings due to testes.
• In partial androgen insensitivity syndrome (PAIS), mild differences in the genital structure is observed.
• Phallus is smaller than a typical penis but larger than a typical clitoris. The labioscrotal folds are almost but not completely fused in the midline of the perineum, producing a small perineal pouch termed a "pseudovagina". Instead of being on the tip of the phallus, the urethra remains in this pseudovagina of the perineum (a position termed a 3rd degree hypospadias). The labioscrotal skin flanking the pseudovagina remains less prominent than labia but less thinned, rugated, and fused than a scrotum. The testes usually remain in the abdomen but occasionally can be felt in the inguinal canal. This genital configuration has traditionally been referred to as a pseudovaginal perineoscrotal hypospadias (PPSH) and can occur in other intersex conditions. - in Reifenstein syndrome.
• Variants of Reifenstein syndrome occur with greater or less androgen sensitivity and correspondingly more or less genital masculinization. The common feature is that they have enough ambiguity that they are not simply assumed to be normal female infants, as is usual in CAIS and PAIS.

Classification of Androgen Insensitivity Syndrome Phenotypes:'

Classification of Androgen Insensitivity Syndrome Phenotypes
Type	External Genitalia	Findings
CAIS - (Complete androgen insensitivity syndrome)	Female (“testicular feminization”)	Absent or rudimentary wolffian duct derivatives. Absence or presence of epididymides and/or vas deferens. Inguinal, labial, or abdominal testes. Short blind-ending vagina. Scant OR absent pubic AND/OR axillary hair.
Predominantly female (“incomplete AIS”)	Inguinal OR labial testes. Clitoromegaly and labial fusion. Distinct urethral and vaginal openings OR a urogenital sinus.
PAIS - (Partial androgen insensitivity syndrome)	Ambiguous	Microphallus (<1 cm) with clitoris-like underdeveloped glans; labia majora-like bifid scrotum. Descended OR undescended testes. Perineoscrotal hypospadias OR urogenital sinus. Gynecomastia (development of breasts) in puberty.
Predominantly male	Simple (glandular or penile) OR severe (perineal) “isolated” hypospadias with a normal-sized penis and descended testes OR severe hypospadias with micropenis, bifid scrotum, and either descended OR undescended testes. Gynecomastia in puberty.
MAIS - (Mild androgen insensitivity syndrome)	Male (“undervirilized male syndrome”)	Impaired spermatogenesis AND/OR impaired pubertal virilization. Gynecomastia in puberty.