Tests

The DSD team may recommend imaging, blood and other tests, examinations or evaluations. Some examples are included below.

Endocrinology Tests

Stimulation Tests

An Adrenocorticotropic Hormone (ACTH) Stimulation test looks for problems of the adrenal gland. The adrenal gland produces three main hormones: aldosterone for salt balance, cortisol to help the body deal with stress and the male hormone testosterone. Some adrenal gland problems are life threatening. The test is done over 2-3 hours, requires 2 or 3 blood samples and results are available in 1-2 weeks.

An Adrenal Profile is a blood test sent during ACTH Stimulation. It measures several different substances produced in the adrenal gland. Results are available in 1-2 weeks.

A human Chorionic Gonadotropin (hCG) Stimulation is a test for whether the testicles produce normal levels of testosterone and Dihydrotestosterone (DHT). Blood tests are drawn for testosterone and DHT, then the hCG is given as an injection. Another blood draw for testosterone and DHT is done 72-96 hours later. (There are other ways to do the hCG stimulation test, this is the most common way we do it.) Results are available in 1-2 weeks.

Hormone Levels

Follicle Stimulating Hormone (FSH) is a hormone signal from the pituitary gland to the ovaries or testicles, measured by a blood test. Results are available in 24 hours.

Luteinizing Hormone (LH) is a hormone signal from the pituitary gland to the ovaries or testicles, measured by a blood test. Results are available in 24 hours.

Estradiol is a female hormone, measured by a blood test. Results are available in 3-5 days.

Testosterone is a male hormone, measured by a blood test. Results are available in 1-2 weeks.

Dihydrotestosterone (DHT) is an active male hormone, measured by a blood test. Results are available in 1-2 weeks.

Electrolytes

Electrolytes are blood chemicals such as sodium and potassium that may be abnormal in DSD that involve the adrenal gland.  Results are available in a few hours.

Urology Tests

Imaging

Pelvic ultrasound allows the evaluation of the internal genital and bladder structures.

A genitogram is a test where a contrast solution is injected into an opening in the genital region to provide an outline or roadmap of the bladder system and genital system.

Other tests: Sometimes a pelvic MRI or CT scan is ordered in older individuals to define the internal pelvic organs.

Genital and Pelvic Examination

The genital and pelvic exam is routinely performed to evaluate the physical appearance as well as the possible functional issues related to the genital and urinary systems. The urologist may also take pictures and record measurements of the genital and pelvic anatomy (requires consent from patient/parent/guardian).

Procedures

Endoscopy is a procedure where a small scope is placed into an opening in the genital region to evaluate the anatomy of the bladder system and genital system.

An urethroplasty is a procedure where the urethra is surgically repaired to improve function and genital appearance. Hypospadias is a common condition (occurring in 1/150 males) where the urethral opening is not at the end of the penis and requires a urethroplasty.

A vaginoplasty is a procedure to improve the function and genital appearance. A vaginoplasty may be done when the vagina is connected into a common sinus or channel with the bladder, there is no vaginal opening, or the vagina is narrow.

A clitoroplasty is a procedure to improve the genital appearance. There is no role for removal of the clitoris.

Clinical Genetics and Genomics Tests

Physical Examination

A physical examination from a geneticist is a little different from other types of exams. We look closely at all parts of the individual including facial features, the positioning of the fingers and toes, the size of the head in relation to the body, etc. These pieces of information are very important to give us clues to the underlying cause of the DSD.

Family Pedigree and History

A history from a geneticist is also different from the typical questions a doctor asks. We talk a lot about the family history in great detail including a history of infertility, developmental problems and other medical problems in family members. We will talk about the birth and developmental history of the patient as well as their medical history.

Cytogenomics and Molecular Genomics Tests

Cells from peripheral blood, buccal (cheek) swab or skin punch can be used for cytogenomics testing. Cells from these tissues are either directly obtained, or grown in culture and harvested for karyotype analysis, FISH (fluorescence in situ hybridization) and CMA (chromosome microarray analysis). These tests can determine the sex chromosome complement of an individual (presence or absence and number of copies of X and Y), as well as DSD-related changes to sex chromosomes and non-sex chromosomes (autosomes). Results are obtained within 5-7 days.

Sequencing (Gene and Whole Genome) determines genomic abnormalities at the DNA level.

Gynecology Tests

Physical Examination

Gynecology can provide minimally invasive assessment and imaging of the reproductive organs using instruments such as vaginoscopy, cystoscopy, laparoscopy, ultrasound and MRI.

Surgery

Surgical procedures involving the external and internal genital structures may be necessary.

Reproductive Health and Hormone Treatment

We prescribe hormonal medications to both enable as well as slow down sexual maturation. We are very comfortable discussing sexuality, self-esteem, sexual identity and other reproductive health matters.

Psychiatry and Psychology Tests

Answering Questionnaires

Children and families may be asked to fill in questionnaires to help the psychologist better understand your child’s feelings and behaviors.

 

For more terms related to DSD, please see the Glossary.