Referral Guidelines are peer reviewed guidelines developed to assist referring providers in their approach to a patient presenting with common signs or symptoms suggestive of an endocrine condition, and when to refer to Pediatric Endocrinology.
History:
• Poor feeding
• Lethargy
• Family history of SIDS
• Family history of intersex variation
• Family history of consanguinity
Physical findings:
• Low or high blood pressure
• Bilateral cryptorchidism/undescended testes
• Hypospadias with unilateral cryptorchidism/undescended testes
• Posterior labial fusion
• Skin hyperpigmentation
• Micropenis
Blood tests:
• Sodium
• Potassium
• Glucose
• Cortisol
• 17-OH progesterone drawn no earlier than day 3
• Karyotype
Other tests to consider after consultation with Pediatric Endocrinologist
• Hormone studies
• FISH for SRY
• Abdominal/pelvic ultrasound
Urgent:
All cases of variations in sex characteristics are considered an emergency and should be promptly referred to a pediatric endocrinology team with a multidisciplinary approach to these patients.
Sex assignment is not done until evaluation is completed by the multidisciplinary team.
- Results of newborn screen. However, do not delay request for consultations while awaiting screen results.
- Pertinent medical records
- Recent laboratory and radiologic studies
PES Educational Video Available in English and Spanish
Handout developed by a British support organization is available in English and Spanish:
Congenital Adrenal Hyperplasia: A Guide for Families
| XY DSD | Partial gonadal dysgenesis
Deficiency of testosterone biosynthesis 5 alpha reductase-2 deficiency Abnormal androgen receptor activity (Androgen insensitivity syndrome) |
| XX DSD | Abnormal fetal androgen production (congential adrenal hyperplasia, CAH)
Excess maternal androgen production Placental aromatase deficiency Drugs administered to mother during pregnancy |
| Syndromes with multiple congenital abnormalities | VATERL syndrome
CHARGE syndrome |
| Sex Chromosome DSD | 45,X: Turner Syndrome and variants (mosaicism may result in atypical genitalia)
47,XXY: Klinefelter syndrome and variants 45,X/46,XY: Mixed gonadal dysgenesis and ovotesticular DSD 46,XX/46,XY: Chimeric and ovotesticular DSD |
Congenital Adrenal Hyperplasia: A Guide for Families
While evaluating a child with variations in sex characteristics the primary concern should be
- Is this associated with a life-threatening condition? Congenital adrenal hyperplasia is associated with adrenal insufficiency and may also be associated with salt wasting. If not recognized and treated urgently, this can lead to shock.
- Sex of rearing: Ideally a decision about sex of rearing should be made as early as possible, but only after appropriate work up in the setting of a multidisciplinary team has been done. It can be very traumatic for family and the patient to change the sex designation later on in life. Care should be taken to avoid calling the baby “baby boy” or “baby girl” until appropriate work up is done and a decision has been made. Defer any questions about surgery to the multidisciplinary team.
Flück CE, Güran T. Ambiguous Genitalia in the Newborn. [Updated 2023 Nov 13]. In: Feingold KR, Anawalt B, Blackman MR, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279168/
Authors: Sowmya Krishnan and Amy Wisniewski September 2020
Revised by: Michelle Knoll December 2022
Revised by: Susan E Stred March 2025
