Differences of Sex Development (DSD) Center

• We are the first and only DSD program in the Intermountain West. This innovative program was launched collaboratively by Primary Children’s Hospital and the University of Utah and serves Utah, Idaho, Wyoming, Nevada, and Montana.
• We have an integerated pediatric psyhocologist with years of specialized training in pediatric DSD who provides ongoing emotional support to patients and their families surrounding healthcare decision making and reproductive health.
• As an interdisciplinary clinic, numerous specialists at Primary Children’s Hospital collaborate to provide you the best care. This collaboration is critical because these conditions commonly involve most if not all of these specialties, which allows our providers to offer tailored approaches to each patient.
  • Urology
  • Gynecology
  • Endocrinology
  • Genetics
  • Psychology

46,XX DSD
Disorders of androgen excess

• Congenital adrenal hypersplasia (CAH)
  • Classic and Non-classic Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency
  • Atypical forms of CAH, such as 11-beta-hydroxylase deficiency
• Classic CAH
• 21- hydroxylase deficiency
• 11-hydroxylase deficiency
• Non-Classic CAH
• Aromatase deficiency
• Maternal exposure
• Iatrogenic 

Disorders of gonadal (ovarian) development

• Ovotesticular DSD
• Testicular DSD (eg. SRY, duplicate SOX 9)
• Gonadal dysgenesis
• Syndromic forms

Unclassified 

• MRKH (Vaginal agenesis)
• MURCS
• Complex syndromic disorders 

46,XY DSD
Disorders of gonadal (testicular) development

• Complete gonadal dysgenesis (Swyer syndrome)
• Parial gonadal dygenesius
• Gondal regression
• Ovotesticular DSD

Disorders of Androgen synthesis or action

• Androgen biosynthesis defect
  • 5 alpha reductase deficiency
  • StAR mutations
  • 17-hydroxysteroid dehydrogenase deficiency
• Defect in androgen action
  • Complete androgen insensitivity
  • Partial androgen insensitivity
• LH receptor defects
  • Leydig cell hypoplasia/aplasia
• Persistent Mullerian duct syndrome
• Disorders of AMH and AMH receptor
• Severe hypospadias
• Bilateral undescended testes

Sex Chromosome DSD

• 45,X (Turner syndrome and variants)
• 47,XXY (Klinefelter syndrome and variants)
• 45,X/46,XY (mixed gonadal dysgenesis)
• 46,XX/46,XY (chimeric)

*The DSD Center does not include isolated gender dysphoria or transgender care. For individuals unsure of or seeking treatment for gender dysphoria, please refer to GEMS clinic.

Our multidisciplinary team offers a comprehensive evaluation and evidence-based management of all aspects of DSD:

Genital Anatomy Specialists

•  Pediatric & Adolescent Gynecology: a surgical doctor specializing in gynecologic care for children and teenagers including menstrual,  reproductive, and surgical issues. As part of the DSD team, common surgical issues that this specialist can address include relieving an obstructed uterus or vagina, creating a new vagina for a female who was born without a vagina, decreasing sensitivity and bother from an enlarged clitoris, separating the vagina from the urethra, and many others.
• Pediatric Urology: a surgical doctor specializing in the urinary tract and male and female internal and external genitalia for infants, children, and teenagers.  As part of the DSD team, common surgical issues that this specialist can manage include repairing severe hypospadias, moving testicles into the scrotum, reconstructing a scrotum, separating the vagina from the urethra, and many others.

Behavioral Health

• Pediatric Psychology: a clinical psychologist specialized in working with children, teens, and young adults with a DSD, and their families. As an integral member of the DSD team, this specialist can screen for child and family adjustment to the diagnosis and associated symptoms/outcomes, provide assessment of gender identity, offer education to children and families, help clarify medical terminology, support children and families in developing a “story” they can use to share information with others, if they choose, and facilitate shared decision-making about gender rearing, hormones, and timing of surgery.
• Child Life: Child Life Specialists are specialized medical professionals with expertise in child development who help a child through difficult medical procedures, surgeries, or encounters. They ease discomfort using different techniques like play, education and preparation.

Endocrinology

• Pediatric Endocrinology: a medical doctor specializing in conditions affecting hormone production, focusing on glands such as the adrenals, ovaries, and testicles.
• Our endocrinologists frequently partner with local endocrinologists for continuity of care.

Genetics

• Geneticist: A doctor specializing in the diagnosis and management of hereditary disorders. They are experts at discovering the genetic cause for atypical genitalia.
• Genetic counselor: A midlevel healthcare provider with advanced training in medical genetics and psychosocial counseling. They help support and educate patients on genetic testing and genetic conditions. They also look into family history to provide counseling on risk recurrence risk and family planning.

Education & Support 

• Our team strives to provide high quality education to every patient and family utilizing nationally available resources.  Please see links below.
• Our team is also an integral member of a group of 17 DSD clinics from across North America who meet monthly to discuss recent advances in the field and to review challenging and particularly unusual patient presentations.

Process for scheduling a visit

Schedule an appointment: (801) 662-1676, option 1 Referrals: Fax (801) 587-7539

Prior to your visit

Our team strongly believes that the best healthcare involves attention to the person as a whole. This means that we assess both the medical aspects of the child’s condition as well as the well-being of the child and the family. To help us provide the best care for your child and family, approximately 2 weeks before your child’s visit you will be emailed links to intake forms so our team can learn more about your child’s daily adjustment and family functioning. These forms should be completed before your clinic visit. You should also expect to be contacted by our clinic coordinator to discuss the clinic visit and requested information which may include any clinical evaluations and testing already performed for your child’s diagnosis. Examples include imaging (genitogram, pelvic ultrasound),  blood tests (genetic testing, karyotype, hormone labs), and any other test that may have been done. Our DSD coordinator will work on obtaining any referral or authorizations which may be required by your insurance provider. Patients are responsible for co-pays and deductibles incurred at the time of service. Copays will be collected upon check-in. Patient should check with their insurance in regards to whether or not any deductibles apply

Your first appointment:

• Our interdisciplinary clinics are typically held on Friday mornings or afternoons in the Primary Children’s Eccles Outpatient Services Building.
• To allow for enough time for you to meet individually with all team members involved in your child’s care, appointments usually last at least 2 hours.
• The DSD team will have already prepared for your visit prior to your arrival to the clinic by reviewing all available records and having an interdisciplinary team meeting.
• The providers look forward to meeting with you in clinic to ask clarifying questions and to understand your goals and wishes.
• The DSD team will also meet again after your visit to develop a comprehensive plan of care which will also be communicated to you and your family.
• The patient and family are very important members of our team and therefore we intend for you to be active participants in your healthcare decision making and fully informed of the comprehensive evidence based care plan.

Our DSD coordinator is available for any questions you have about your upcoming visit. The role of the coordinator is to maintain open communication between our team, families, and patients, along with ensuring that all follow up arrangements have been coordinated. Please contact us at (801) 662-1636, option 2 to speak with our dedicated nurse.

Tests & Imaging

The goal of performing certain tests (such as labs and/or imaging) is to help make an accurate diagnosis and initiate timely treatments. We understand that imaging and tests can cause anxiety for patients and families, and therefore we strive to only order tests that are required to provide comprehensive DSD care. Examples of tests and imaging that may be performed:

• Physical Examination: A simple visual inspection of the external genitalia may be included during your visit depending on the reason for your visit to ensure that all healthcare provider understand the genital anatomy. Our team respects you and your child’s preferences when it comes to physical examination. An internal vaginal examination (if applicable) will only be performed based on patient symptoms and comfort with this examination.
• Blood Test: Tests that have not already been completed prior to your visit may be ordered given they are required for accurate diagnosis and/or management of this complex medical condition.  Occasionally, we may order the same test again to confirm a previous result or to clarify a question we may have. If these blood tests are done at Primary Children’s Hospital, you can expect a highly-skilled phlebotomist who has drawn blood from tiny babies to adult-sized teenagers – they are really experienced and specialized at what they do!  Some types of blood tests ordered may be:
  • Hormone levels
  • Electrolytes (also known as “salts”)
  • Genetic tests
• Imaging Tests: These tests are usually not performed on the day of your clinic visit
  • Abdominal and pelvic ultrasound: an ultrasound done on the abdomen is a common imaging study ordered to assess the uterus and ovaries. Ultrasounds are non-invasive tests that use ultrasound “jelly” to get a good picture. Your child will need to hold relatively still, but there are no pokes from needles. We do not order ultrasounds done through the vagina.
  • Renal and bladder ultrasound: an ultrasound done on the abdomen is a common imaging study done to assess the bladder and kidneys.
  • Genitogram: This is a type of Xray that uses specialized radiographic material injected through a small tube that is placed into a child’s urinary and/or vaginal opening. The purpose of this test is to give your doctors an idea of what the internal reproductive and urinary structures look like.
  • Magnetic resonance imaging (MRI): this imaging study is the highest standard for evaluating complicated urinary and reproductive anatomy that are not made clear enough on pelvic ultrasound.

Our clinic is conveniently located at Primary Children’s Eccles Outpatient Services Building.  Primary Children’s Hospital is located near the University of Utah Health Campus. The Eccles Outpatient Services Building is the curved, glass covered building across from Primary Children’s Hospital on the west (valley) side of the street.  

**Please note that sometimes information booth employees may direct you to the Urology Clinic on the third floor of the main hospital.  This is incorrect. You are looking for “Station 7” on the third floor of the Eccles Outpatient Services Building.**

Primary Children’s Eccles Outpatient Services 
81 N. Mario Capecchi Drive, Floor 3, Station 7
Salt Lake City, UT 83113

Parking is provided free of charge in a parking garage below the building.

Examples of who to refer:

• Predominantly male-appearing external genitalia with:
  • Bilaterally nonpalpable gonads
  • Severe hypospadias
  • Cryptorchidism or micropenis
  • Known 46XX chromosomes
• Predominantly female-appearing genietalia with:
  • Clitoromegaly
  • Labial fusion (not labial adhesions)
  • Palpable gonads
  • Known 46XY chromosomes

We strive to provide expedited diagnosis and treatment for your patients. When referring patients, please ensure they have copies of documents including recent clinic notes, newborn discharge summaries for infants, imaging and lab tests that were performed. We request that you also fax or email any pertinent information to:

If you have questions about the care of your patient or desire a peer-to-peer consult, please do not hesitate to reach out to us at (801) 662-1636.