DO NOT USE FOR CLINICAL PRACTICE
Please use current guidelines available on the UHNM intranet for patient treatment
Please use current guidelines available on the UHNM intranet for patient treatment
RECOGNITION AND ASSESSMENT
Definition
- New nomenclature: disorders of sexual development (DSD) known formerly as ambiguous genitalia
- Congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical, most commonly:
- congenital adrenal hyperplasia
- gonadal dysgenesis
- partial androgen insensitivity
- For DSD classification, see Supporting information
Factors suggesting DSD
- Overt genital ambiguity (e.g. cloacal extrophy)
- Apparent female genitalia with enlarged clitoris, posterior labial fusion or inguinal/labial masses
- Apparent male genitalia with bilateral undescended testes, isolated perineal hypospadias, micropenis (normal penis ≥1.9 cm), or mild hypospadias with undescended testis
- Family history of DSD e.g. complete androgen insensitivity syndrome (CAIS)
- Discordance between genital appearance and antenatal karyotype
- Pseudo-ambiguity (atrophic vulva and clitoral oedema) in growth-restricted or preterm female babies
PRINCIPLES OF MANAGEMENT
This is a medical emergency; involve consultant immediately
- Avoid gender assignment before expert evaluation
- Consultant to discuss with parents
- always use the term ‘baby’ and avoid using ‘he’, ‘she’ or, most importantly, ‘it’
- advise parents about delaying registration and informing wider family and friends until gender assignment complete
- liaise with laboratory to enable evaluation without indicating gender in laboratory request forms
- Link with expert centre for appropriate evaluation
- Communicate openly with family
- Respect family concerns and culture
- DSD is not shameful
- best course of action may not be clear initially
- parents need time to understand sexual development
First line investigations
- Blood pressure
- Karyotype of QF-PCR (urgent)
- Imaging
- abdominal and pelvic ultrasound by an experienced paediatric sonographer
- assess presence and nature of internal genitalia, including gonads
- Blood tests
- cortisol short synacthen test
- 17-OHP (delay until day 3 to allow maternal hormonal effects to decline)
- testosterone and oestradiol
- LH, FSH
- U&E and glucose
Further investigations (following discussion with specialist endocrine advice)
- dHT (dihydrotestosterone)
- DHEA (dihydroepiandrosterone)
- Androstenedione
- ACTH
- LHRH and hCG stimulation
- ACTH stimulation test
- AMH (anti-mullerian hormone) imaging studies
- Molecular genetic studies [e.g. for complete androgen insensitivity syndrome (CAIS)]
- Urine: steroid profile
- Biopsy of gonad
TREATMENT
- Avoid unnecessary admission to NNU
- Check serum electrolytes and plasma glucose
- in congenital adrenal hyperplasia electrolytes usually not abnormal until day 4
- Involves a multidisciplinary team with an identified person (usually consultant neonatologist) acting as primary contact with family
- Specific treatment dependent on many factors and diagnosis
- discuss with specialists