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.
poor feeding, lethargy. Family history of SIDS
Low or high blood pressure
including bilateral cryptorchidism, hypospadias with unilateral cryptorchidism, posterior labial fusion Hyperpigmentation
• Cortisol (7-8 am)
• 17-OH progesterone
Other tests to consider after consultation with Pediatric Endocrinologist
• Hormone studies
• FISH for SRY
• Abdominal/pelvic ultrasound
All cases of ambiguous genitalia are considered an emergency and should be promptly referred to a pediatric endocrinology team with a multidisciplinary approach to these patients.
Gender assignment is not done until evaluation is completed by the multidisciplinary team
- Results of newborn screen
- Pertinent medical records
- Recent laboratory and radiologic studies
|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
Excess maternal androgen production
Placental aromatase deficiency
Drugs administered to mother during pregnancy
|Syndromes with multiple congenital abnormalities||VATERL 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
While evaluating a child with ambiguous genitalia the primary concern should be
- Is this associated with a life-threatening illness? Congenital adrenal hyperplasia is associated with adrenal insufficiency (and may also be associated with salt wasting), which if not recognized and treated urgently can lead to mortality in the infant.
- Gender of rearing: Ideally a decision about gender 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 gender of rearing 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. Certain factors that go into this decision include the underlying etiology, potential for fertility, need for multiple surgeries and what is known about the long-term outcome of individuals with this condition. Medical team should explain the process of sex determination and differentiation to the parents, and they should be given time to think about their choices.
- Krishnan S, Meyer J, Khattab A. Ambiguous Genitalia in the Newborn. 2022 Dec 15. In: De Groot LJ, Beck-Peccoz P, Chrousos G, Dungan K, Grossman A, Hershman JM, Koch C, McLachlan R, New M, Rebar R, Singer F, Vinik A, Weickert MO, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available From http://www.ncbi.nlm.nih.gov/books/NBK279168/ PubMed PMID: 25905391.
- Lee PA, Nordenstrom A, Houk CP et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach, and Care. Horm Res Paediatr 2016;85:158-180.