Our team at the Differences of Sex Development (DSD) Program at St. Louis Children’s Hospital may recommend imaging, tests, examinations or evaluations to confirm a diagnosis and/or recommend a treatment plan. 

This page lists the tests and procedures most commonly recommended by the DSD team. We may also recommend other tests, as needed. Please know that throughout your child’s testing and examinations, our team focuses on respecting your and your child’s wishes and dignity. 

DSD Endocrinology Tests 

Stimulation Tests

  • Adrenocorticotropic hormone (ACTH) stimulation test looks for problems of the adrenal gland. Some adrenal gland problems can be life threatening. 
    • The adrenal gland produces three main hormones: aldosterone for salt balance, cortisol to help the body deal with stress and testosterone, a sex hormone. 
    • The test is done over 2-3 hours, requires 2 or 3 blood samples and results are available in 3-4 weeks.
  • Adrenal profile is a blood test sent during ACTH stimulation. 
    • An adrenal profile measures several different substances produced in the adrenal gland. 
    • Results are available in 3-4 weeks.
  • Human chorionic gonadotropin (hCG) stimulation is a test to see how much testosterone and dihydrotestosterone (DHT) the body produces, and how well the body produces them, in response to hCG. 
    • Blood tests are drawn for testosterone and DHT, and then the hCG is given as an injection. 
    • Another blood draw for testosterone and DHT is done 72-96 hours later. (Note: there are other ways to do the hCG stimulation test; this is the most common way we do it.) 
    • Results are available in 3-4 weeks.

Hormone Levels

We may recommend testing your child’s levels of the following hormones to determine a diagnosis or treatment plan:

  • 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 sex hormone, measured by a blood test. 
    • Results are available in 3-5 days.
  • Testosterone is a sex hormone, measured by a blood test. 
    • Results are available in 3-4 weeks.
  • Dihydrotestosterone (DHT) is a sex hormone, measured by a blood test. 
    • Results are available in 3-4 weeks.
  • Anti-Müllerian hormone (AMH) is a hormone made by the testicles and ovaries that can help evaluate their function, measured by a blood test.
    • Results are available in 2-5 days. 


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

DSD Urology Tests 


  • Pelvic ultrasound allows the evaluation of the internal genital and bladder structures.
  • Genitogram is a test where a contrast solution is injected into an opening in the genital region; this provides an outline of the bladder system and genital system.
  • Pelvic MRI or CT scan may be ordered in older individuals to define the internal pelvic organs.

Genital and Pelvic Examination

  • Genital and pelvic exam is routinely performed to evaluate the physical appearance and possible functional issues related to the genital and urinary systems. 
    • The urologist may wish to take pictures and record measurements of the genital and pelvic anatomy.
    • Note: This will require consent from a patient and/or parent or guardian.

DSD Clinical Genetics and Genomics Tests

Genetic Physical Examination

  • Genetic physical exam looks 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

  • Family history discussion in great detail, including a history of infertility, developmental problems and other medical issues 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

  • Cytogenomics testing uses cells from blood, buccal (cheek) swab or a skin punch to study chromosomes (cytogenomics). 
    • Cells from these tissues are either obtained directly from your child, or they are grown in culture and harvested. 
    • They are used for different chromosome studies: karyotype analysis, FISH (fluorescence in situ hybridization) and CMA (chromosome microarray analysis). 
    • These tests can determine the sex chromosome complement of an individual, which is the presence or absence and number of copies of X and Y.
    • They can also determine 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.

DSD Gynecology Tests 

Gynecologic Physical Examination

  • Gynecologic physical exams provide evaluation and imaging of the reproductive organs using instruments that are less invasive, such as vaginoscopy, cystoscopy, laparoscopy, ultrasound and MRI.

DSD Emotional Well-Being Evaluation 

  • Questionnaires help our psychologist better understand your child’s feelings and behaviors. Our team is comfortable discussing sexuality, self-esteem, sexual identity and other reproductive health matters with you and your child.

DSD Hormone Treatment

  • Reproductive health and hormone treatment can enable or slow down sexual maturation. 

DSD Procedures 

To develop a treatment plan, your DSD team may recommend procedures that help us have a better understanding of your child’s anatomy.

As part of your child’s treatment plan, we may recommend a surgical procedure. We typically do not recommend surgical procedures until your child is older and can be part of the decision-making process. 

However, when there are functional issues with your child’s body, such as your child does not have a way to urinate, we will recommend surgery to correct the issue. 

Below are some of the procedures we perform at St. Louis Children’s Hospital: 

  • 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.
  • Urethroplasty is a surgical procedure where the urethra is repaired to improve function and genital appearance. In hypospadias (a common condition in males) the urethral opening is not at the end of the penis and requires a urethroplasty.
  • Vaginoplasty is a surgical 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.
  • Clitoroplasty is a surgical procedure to improve the genital appearance. There is no role for removal of the clitoris.