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Newborn Differences of Sex Development (DSD) Admission Checklist

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This interdisciplinary admission checklist provides guidance for the University of Utah Hospital’s postpartum and Primary Children’s NICU care teams 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 unique to these facilities. The diagnosis of a Difference of Sex Development (DSD) must not be made based only on information contained herein.

Key Points

  • If bilateral testicles are palpated and descended (even if scrotum is bifid), then the patient has proximal hypospadias and is male and does not need urgent inpatient evaluation.
  • 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 dihydrotestosterone (DHT), follicle-stimulating hormone (FSH), or luteinizing hormone (LH) before 48 hours.
  • Use “differences of sex development” rather than “disorders of sex development” or “disorder/difference of sex development.” Avoid the incorrect and outdated term “intersex.”
  • 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, or obtaining serology is to consult 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), then the patient has proximal hypospadias and is male and does not need urgent evaluation as an inpatient.

IF DSD is 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.

  1. Have the family watch this DSD educational video. This 8:00-minute video was designed by the Pediatric Endocrine Society and is approved by our DSD clinic: Newborn Differences of Sex Development Teaching Video (Pediatric Endocrine Society) or Google search “PES DSD Teaching Video.”
  2. Place the following routine consultations:
    • Endocrinology. The consulting endocrinologist will:
      • Perform a vital initial physical exam if not already done to confirm ambiguity prior to initial blood work being sent), and
      • Assist with the ordering of serologic testing.
      • If problems arise, please page Dr. Kathleen Timme about the DSD consult.
    • Urology. The consulting urologist will:
      • Perform a timely exam to confirm DSD diagnosis (if not already done).
      • If problems arise, please call Dr. Anthony Schaeffer (801-680-9897).
    • Gynecology
    • Medical Genetics. The 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, this may be delayed.
    • For patients at the U of U NICU, ultrasounds can be performed at the University of Utah. However, it must clearly state 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. The necessity of this test will be determined by urology; do not order unless otherwise instructed.
    • Indication: Evaluate for Mullerian structures, prostatic utricle, urethral length.
    • VCUG/Genitogram studies must be performed at PCH Medical Imaging Department.

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: Within the first 24-36 hours, please send FISH for X/Y centromere, anti-Muellerian hormone (AMH), and basic metabolic panel (BMP).
    • Important: Genetics and Endocrinology will direct how and when to order other critical labs like Testosterone (T), dihydrotestosterone (DHT), follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and 17-OH Progesterone (if virilized female). Please do not order T, DHT, FSH, LH, or other hormone tests other than AMH 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 DSD workups are a priority and will shorten the turnaround to less than 5 days.

  • 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. Please do not order T, DHT, FSH, LH, or other hormone tests other than AMH before 48 hours as they are nondiagnostic.
  • Genetics: utility of additional testing will be determined on a 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, the earliest this meeting will occur is 5 days after birth when the necessary blood work has resulted.
  • Weekend discharges are discouraged to enable a family meeting on Monday or Tuesday of the 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 are 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.

Services & Referrals

Intermountain Primary Children’s Hospital Differences of Sex Development Clinic Information

  • When does the DSD clinic meet? January, April, July, September
  • Where is the 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, Ph.D.
  • 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 University of Utah Hospital and Primary Children’s Hospital’s DSD clinic.

Authors & Reviewers

Initial publication: February 2023; last update/revision: April 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
Reviewers: Jennifer Goldman, MD, MRP, FAAP
Kirti Sivakoti, MD
Christina Thuet, MD, IBCLC, FAAP
Julie Shakib, DO, MS, MPH
Bhanu Muniyappa, MD
Kimberly Stowers, MD
Jose Morales Moreno, MD
Meghan M. O'Connor, MD
Elizabeth R Smith, MD
Kirk Bjella, MD