Diagnosis of Androgen Insensitivity Syndrome
Diagnostic Test list for Androgen Insensitivity Syndrome:
The list of medical tests
mentioned in various sources as
used in the diagnosis of Androgen Insensitivity Syndrome
includes:
- Genetic tests - to test for XX versus XY sex chromosomes.
- Scans - to detect the testes
Androgen Insensitivity Syndrome Diagnosis: Book Excerpts
Diagnostic Tests for Androgen Insensitivity Syndrome: Online Medical Books
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for more information about diagnostis of Androgen Insensitivity Syndrome.
TESTICULAR SWELLING:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is there pain or tenderness of the testicle? The presence of pain or tenderness should suggest torsion of the testicle, orchitis, epididymitis, and a strangulated inguinal hernia.
- Is the testicle retracted or does elevation of the testicle aggravate the pain? These findings would suggest torsion of the testicle.
- Does the swelling transilluminate? If the swelling transilluminates, the mass or swelling is most likely a hydrocele or spermatocele.
- Is the swelling reducible? If the swelling is reducible, the mass is probably an inguinal hernia or varicocele. A mass that does not reduce could still be an incarcerated inguinal hernia.
DIAGNOSTIC WORKUP
A CBC, sedimentation rate, urinalysis, chemistry panel, and VDRL test should be done routinely. If a tumor of the testicle is suspected, 24-hr urine gonadotrophins and alpha-fetoprotein levels may be ordered. If there is a urethral discharge, a smear and culture should be done. If a hernia is strongly suspected, a general surgeon should be consulted. Testicular scans with technetium-99m will help distinguish torsion of the testicle from orchitis or epididymitis. Scrotal ultrasound may be useful in differentiating a hematoma, abscess, or rupture from orchitis. It may also be helpful in evaluating testicular tumors. CT scan of the abdomen and pelvis may be necessary to rule out metastasis.
The expense of some or all of these tests may be avoided by consulting a urologist early in the diagnostic workup.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
TESTICULAR ATROPHY:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is it unilateral? The presence of unilateral atrophy would suggest hernia surgery, previous orchitis from mumps, gonorrhea, syphilis, tuberculosis or elephantiasis, varicocele, hydrocele, and an undescended testicle.
- Is there a history of trauma or surgery? A history of surgery would suggest that the testicular atrophy is related to hernia surgery or surgery for undescended testicle, vasectomy, or prostatectomy. History of trauma may suggest that the patient had an acute orchitis or hemorrhage from trauma.
- Is there a history of an infection? A history of infection would suggest mumps, gonorrhea, syphilis, tuberculosis, or elephantiasis.
- Is there a loss of secondary sex characteristics? These findings would suggest Klinefelter's syndrome.
- Is there an enlarged liver? The presence of an enlarged liver or other signs of hepatic dysfunction would suggest cirrhosis or hemochromatosis.
- Are there abnormal neurologic findings? The presence of abnormal neurologic findings would suggest myotonia atrophica.
DIAGNOSTIC WORKUP
Unilateral testicular atrophy usually requires no workup as long as there are no complaints of sexual infertility or impotence. A smear and culture of any urethral discharge should be done. Sometimes, prostatic massage may be necessary to obtain a good specimen.
The workup of bilateral testicular atrophy may include a serum testosterone, FSH, urine gonadotrophins, and chromosome studies to rule out Klinefelter's syndrome; liver function tests and liver biopsy to rule out cirrhosis and hemochromatosis; and EMG and muscle biopsies to rule out myotonia atrophica. A testicular biopsy may be necessary ultimately. A urologist will be consulted long before most of these tests would be performed.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
TESTICULAR ATROPHY:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of testicular atrophy may require a chromatin analysis, serum testosterone, FSH and LH levels, and biopsy, but referral to an endocrinologist is the best way to get this accomplished with accuracy.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
TESTICULAR MASS:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Testicular masses may be differentiated by transillumination (hydroceles and spermatoceles transilluminates, whereas hernias and tumors do not). Hernias may also be differentiated by reducing them (some will not reduce, however, if they are incarcerated) and auscultation may reveal bowel sounds. In noncommunicating hydroceles and testicular tumors, one may get above the swelling, whereas in torsion and hernias one cannot. In torsion, the tenderness is increased by elevation of the testicle, whereas in orchitis the tenderness is relieved if elevation is done for an hour or more. Surgery may be the only way to differentiate the cause of the mass.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
TESTICULAR ATROPHY:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of testicular atrophy may require a chromatin analysis,
serum testosterone, follicle-stimulating hormone (FSH) and luteinizing
hormone (LH) levels, and biopsy, but referral to an endocrinologist is the
best way to get this accomplished with accuracy.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
TESTICULAR MASS:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Testicular masses may be differentiated by transillumination
(hydroceles and spermatoceles transilluminate, whereas hernias and tumors do
not). Hernias may also be differentiated by reducing them (some will not
reduce, however, if they are incarcerated), and auscultation may reveal
bowel sounds. In noncommunicating hydroceles and testicular tumors, one may
get above the swelling, whereas in torsion and hernias one cannot. In
torsion, the tenderness is increased by elevation of the testicle, whereas
in orchitis the tenderness is relieved if elevation is done for an hour or
more. Serum alpha-fetoprotein beta-human chorionic gonadotropin (HCG) or
lactic dehydrogenase (LDH) will be elevated in testicular
tumors. Surgery may be the only way to differentiate the cause of the mass.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
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