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Newborn Differences of Sex Development (DSD) Admission Checklist

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This interdisciplinary admission checklist guides the University of Utah Hospital postpartum and Primary Children’s NICU care teams how to care for the newborn with a suspected or known difference of sex development after delivery. Although much of this information can be generalized, it must be noted that this admission checklist pertains to children receiving care at Intermountain Primary Children’s Hospital and the University of Utah, two locations in Salt Lake City, UT. There are institution specific providers and testing recommendations that are unique to these facilities. The diagnosis of a Disorder/Difference of Sex Development must not be made based only on information contained herein.

Key Points

  • If bilateral testicles are palpated and descended (even if scrotum is bifid), the patient has proximal hypospadias, is male, and does not need urgent evaluation as inpatient.
  • For all other newborns with atypical or ambiguous genitalia, consult pediatric endocrinology and/or pediatric urology first. This consult should be obtained prior to consulting medical genetics, behavioral health, and/or pediatric gynecology, and before ordering imaging or obtaining serology. Ideally the consultation occurs promptly to enable additional tests to be completed within the first 72 hours.
  • Do not order testosterone or DHT before 48 hours.
  • Use “differences of sex development” rather than “disorders of sex development” or “disorder/difference of sex development.”
  • Care providers should intentionally use gender neutral terms when discussing the infant’s atypical genital appearance. For example, consider using language like “Congratulations, your child is beautiful!” instead of “Your son/daughter is beautiful!” If pressed further, care providers can consider using gender-neutral terms/statements like, “It may take several days for specialists to help better understand your child’s genital development."

Admission Checklist

INITIAL STEP before initiating medical genetics consults, ordering imaging, obtaining serologyconsult pediatric endocrinology and/or pediatric urology. These clinicians will examine the patient and determine if they believe DSD is present. If bilateral testicles are palpated and descended (even if scrotum is bifid), the patient has proximal hypospadias, is male, and does not need urgent evaluation as inpatient.
IF DSD suspected and supported based on endocrinologists’ and/or urologists’ exam, proceed with the following process for consultations for University of Utah Hospital and Intermountain Primary Children’s Hospital.
  • Endocrinology
    • After DSD diagnosis is suspected on endocrinologist’s and/or urologist’s exam. . .
    • Consulting endocrinologist will:
      • Perform vital initial physical exam (needed to confirm ambiguity and prior to initial blood work being sent)
      • Assist with the ordering of serologic testing
      • If problems arise, please page Dr. Kathleen Timme about the DSD consult.
  • Urology
    • After DSD diagnosis is suspected on endocrinologist’s and/or urologist’s exam. . .
    • Place standard urology consultation; exam will follow shortly after to confirm DSD diagnosis
    • If problems arise, please call Dr. Anthony Schaeffer (801-680-9897)
  • Gynecology
    • After DSD diagnosis is suspected on endocrinologist’s and/or urologist’s exam. . .
    • Place standard gynecology consultation
  • Medical Genetics
    • After DSD diagnosis is suspected on endocrinologist’s and/or urologist’s exam. . .
    • Place standard medical genetic consultation
    • Consulting geneticist will:
      • Assist with the ordering of serologic testing
  • Behavioral Health
    • Please page Dr. Kristina Suorsa-Johnson, DSD team psychologist
  • Any problems or questions with above – please page Dr. Anthony Schaeffer

Workup – On Admission

Imaging
  • Important notes about imaging
    • Timing of studies: within the first 72 hours is preferred; if child is unstable, may be delayed.
    • VCUG/Genitogram studies must be performed at PCH Medical Imaging Department.
    • For patients at the U of U NICU, ultrasounds can be performed at the University of Utah. However, must state clearly the indication (DSD) and request DR. ANNE KENNEDY or DR. PAULA WOODWARD for these studies.
  • Renal and bladder ultrasound
    • Indication: Evaluate for renal defects (i.e., hydronephrosis, renal dysplasia, solitary kidney, or others)
  • Pelvic ultrasound
    • Indication: Evaluate for uterus and whether intrabdominal gonads are present
  • VCUG/Genitogram
    • Indication: Evaluate for Mullerian structures, prostatic utricle, urethral length
    • Possible. Necessity of test TBD by urology; do not order unless otherwise instructed.
Initial Labs
  • Important notes about bloodwork:
    • To prevent unnecessary testing, prior to ordering bloodwork we ask that an external genital exam be performed by either pediatric urology and/or endocrinology to confirm that the genitalia are atypical
    • Timing of studies: may send FISH for X/Y centromere, AMH, and BMP initially
    • Important: Genetics and Endocrinology will direct how and when to order other critical labs like Testosterone, dihydrotestosterone (DHT), and FSH/LH.
    • Please do not order T, DHT, FSH, LH or other hormone tests before 48 hours as they are nondiagnostic.
  • For genetics
    • X and Y centromere by FISH – ARUP test code 2002298 (CHR FISHI)
    • NOTE: NICU/Nursery Primary Team should email amanda.openshaw@aruplab.com, michelle.bosworth@aruplab.com, and Danielle.lagrave@aruplab.com and cc: josue.flores@hsc.utah.edu and Anthony.schaeffer@hsc.utah.edu to notify them of the urgent DSD test. ARUP knows that DSD workups are priority items and will shorten the turnaround time to less than 5 days.
  • For endocrinology
    • Initial testing: BMP, anti-Mullerian hormone (AMH), 17-OH Progesterone (if virilized female)
  • Indication for all: ambiguous genitalia

Workup - Prior to Discharge

Imaging
  • None unless requested
Labs
  • Endocrine: Follow-up serology will be necessary (T, DHT, DHEAS, Androstenedione, FSH/LH, others) but specifics of what to order and when will be determined by on call endocrinology team.
  • Do not order testosterone or DHT before 48 hours.
  • Genetics: utility of additional testing will be determined on case-by-case basis.

Family Meeting

  • Prior to family meeting, individual services will discuss the general findings but we will await assigning a diagnosis until all studies have returned.
Timing
  • The PCH DSD team recognizes that the family will be very eagerly awaiting and desiring information. However, this meeting will occur at the earliest 5 days after birth because the necessary blood work takes this long to result.
  • Weekend discharges are discouraged to enable family meeting on Monday or Tuesday of following week. 
Coordination
  • The NICU staff (fellow or SW) should arrange a meeting with:
    • At least one representative from PCH DSD Clinic
    • Endocrinology: endocrinologist on call (+/- Kathleen Timme)
    • Urology: Anthony Schaeffer or covering pediatric urologist
    • Gynecology
    • Medical Genetics: Geneticist on call
    • Behavioral Health: Kristina Suorsa-Johnson
    • Neonatology attending
    • NICU social worker
  • If needed, this may be a virtual meeting.
Prior to discharge please contact Heather Evans, DSD Clinic Coordinator via phone (801-213-7704), pager (801-339-6916) or email (heather.b.evans@hsc.utah.edu). She will:
  • Verify studies complete
  • Provide family “care packet” with resources about PCH DSD program
  • Arrange outpatient DSD and endocrinology (when necessary for children with CAH who may need closer, ongoing follow-up) clinic visit(s)
    • Multidisciplinary DSD clinic visits are held once per quarter (see above)

Services & Referrals

Intermountain Primary Children’s Hospital Disorders/Differences of Sex Development Clinic Information
  • When does DSD clinic meet?: January, April, July, September
  • Where is DSD clinic located?: PCH Eccles Outpatient Center, Station 7
List of DSD Team Members (with specialty)
  • DSD Clinic Coordinator: Heather Evans, RN (heather.b.evans@hsc.utah.edu)
  • Medical Genetics: Josue Flores-Daboub, MD, and Audrey Rutz, CGC
  • Pediatric Endocrinology: Kathleen Timme, MD
  • Pediatric Urology: Anthony Schaeffer, MD
  • Pediatric and Adolescent Gynecology: Katherine Hayes, MD and Krista Childress, MD
  • Pediatric Behavioral Health: Kristina Suorsa-Johnson, PhD.
  • Research Coordinator: Alex Britt, BA

Patient Education

Newborn Differences of Sex Development Teaching Video (Pediatric Endocrine Society)
An 8-minute video designed by the Pediatric Endocrine Society and approved by the Utah Hospital and Primary Children DSD clinic.

Authors & Reviewers

Initial publication: February 2023; last update/revision: February 2023
Current Authors and Reviewers:
Authors: Anthony J Schaeffer, MD, MPH, FAAP
Kathleen Timme, MD, MEd
Josue Flores-Daboub, MD
Katherine Hayes, MD, FACOG
Krista Childress, MD, FACOG
Kristina I Suorsa-Johnson, PhD
Heather Evans, RN
Audrey Rutz, CGC
Alex Britt, BS