Disease Information for Testicular feminization syndrome

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Clinical Manifestations
Signs & Symptoms
Breast Swelling Bilateral
Absent pubic/axillary hair
Axillary hair loss
Hirsutism
Hypertrichosis
Pubic hair loss/Thinning
Delayed female adolescence
Genital Hypoplasia/Male
Intersex Spectrum Child
Penis, small (Micropenis)
Large hands/feet
Absent/short blind vagina
Absent/uterus/adnexa
Amenorrhea
Amenorrhea, primary
Delayed menarche
Uterus and adnexa/small/Pelvic exam
Arms too long for body
Tall child
Pulchritude/Beautiful woman/Searls sign
Tall Adult
Tall/thin habitus/long body/Marfanoid
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Adult/all
Population/Child
Population/Children/all
Population/Female
Population/Female-only/limit
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Absent Barr bodies/Buccal smear/female (Lab)
Male sex chromatin Female habitus (Lab)
Testosterone Increased Females
Abnormal Lab Findings - Increased
Estradiol Serum (Lab)
Estrogen, serum (Lab)
FSH/Follicle Stmulating Hormone/ICSH (Lab)
LH/Leutinizing Hormone (Lab)
Testosterone Total (Lab)
URINE Estrogens
URINE FSH
URINE Leutininzing hormone
URINE/Estradiol (Lab)
URINE/Estratriol (Lab)
Diagnostic Test Results
Pathology
BX/Ovary abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Gynecomastia
Infertility/sterility, female
Ovarian aplasia/Congenital absence
Ovarian Dysfunction
Pseudohermaphroditism, male
Secondary female hypogonadism
Testicular feminization syndrome
Disease Mechanism & Classification
Class
CLASS/Endocrine gland (category)
CLASS/Genital, male (category)
CLASS/Testicle disorder (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq11-q12
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Androgen resistance
Pathophysiology/Congenital absent testosterone receptors
Pathophysiology/Genotype male/Phenotypic female
Pathophysiology/Remnant Testis/in labia/female
Pathophysiology/Ovarian dysfunction anovulation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Endocrine/humoral disorders (category)
PROCESS/Hereditofamilial (category)
PROCESS/X-Linked dominant inheritance (ex)
PROCESS/Hermaphrodite/congenital syndrome (ex)
Synonyms
Synonym
Androgen Insensitivity Syndrome Complete, androgen receptor (AR) deficiency, androgen receptor deficiency, complete androgen insensitivity syndrome, complete androgen insensitivity syndrome (CAIS), complete androgen resistance syndrome, complete feminizing testes syndrome, complete testicular feminization s, dihydrotestosterone receptor (DHTR) deficiency, dihydrotestosterone receptor deficiency, Feminisation testicular, Feminization testicular, Feminization Syndrome (Testicular), feminization testicle, Goldberg Maxwell syndrome, Goldberg Maxwell, GOLDBERG MAXWELL SYNDROME, Goldberg Morris syndrome, hairless pseudofemale, Hairless woman syndrome, HAIRLESS WOMEN SYNDROME, MORRIS SYNDROME, Syndrome of feminising testes, Syndrome of feminizing testes, syndrome testicular feminization, testicle feminization, Testicul feminisation syndrome, Testicul feminization syndrome, Testicular feminisation, Testicular feminisation syndrome, Testicular feminization, Testicular feminization (disorder), testicular feminization (TFM) syndrome, testicular feminization syndrome, TFM Testic feminisation synd, TFM Testic feminization synd, TFM Testicular feminisation syndrome, TFM Testicular feminization syndrome, Synonym/Androgen Insensitivity Syndrome (AIS/CAIS), Synonym/Goldberg-Maxwell syndrome, Synonym/Hairless woman syndrome, Synonym/Male psuedohermaphroditism, Synonym/Morris syndrome, Synonym/Reifenstein (Androgen insensitivity)
Definition

A disorder also known as complete androgen insensitivity syndrome (CAIS). The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype.

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External Links Related to Testicular feminization syndrome
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NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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