Ambiguous genitalia in the newborn
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Diagnosing a newborn with a disorder of sex development (DSD) or ambiguous genitalia should be treated with urgency and the neonatologist on call should be informed. DSD's can be associated with hypoglycaemia and/or severe electrolyte disturbance. In addition, being told that their newborn has an unknown gender can cause significant distress for parents.
'Disorders of Sex Development (DSDs)' are defined as conditions involving development of chromosomal, gonadal or anatomical sex. Included are development of ambiguous genitalia, congenital disjunction of internal and external sex anatomy, incomplete development of sex anatomy, sex chromosome anomalies and disorders of gonadal development (1).
Based on a consensus meeting on DSD, published in 2006, the following classification was devised:
46, XX DSD
- Disorders of gonadal (ovarian) development
- Ovotesticular DSD
- Testicular DSD
- Gonadal dysgenesis
- Androgen excess
- Fetal (e.g. 21-Hydroxylase deficiency (1:15,000 births), 11β-Hydroxylase deficiency
- Fetoplacental (e.g. aromatase deficiency)
- Maternal (e.g. luteoma, exogenous)
46, XY DSD
- Disorders of gonadal (testicular) development
- Complete gonadal dysgenesis (Swyer Syndrome)
- Partial gonadal dysgenesis
- Gondadal regression
- Ovotesticular DSD
- Disorders in androgen synthesis or action
- Androgen biosynthesis defect (e.g. 5α-reductase deficiency, 17 hydroxysteroid dehydrogenase deficiency)
- Defect in androgen action
- LH receptor defects
- Disorders of AMH and AMH receptor (persistent mullerian duct syndrome)
- Other (e.g. severe hypospadias, cloacal extrophy)
Sex Chromosome DSD - these are also incorporated in the diagnostic categories above and include:
- 45, X/46, XY (mixed gonadal dysgenesis, ovotesticular DSD)
- 46, XX/46, XY (chimeric, ovotesticular DSD)(1)
History taking and clinical examination
As with every examination, it is recommended that the examiner explains the basics of how the exam will proceed, encourages the parents to ask questions and makes sure to explain each procedure as it is performed. As one of the first questions asked of, and by parents is whether their baby 'is a boy or a girl'? it is understandable that most families, prior to the diagnosis of a DSD, will not even have considered that gender could be ambiguous. Therefore not only do they have the loss of their 'normal' child to grieve for, they have the extra stress of what to say to family and friends. Being empathetic, sensitive and understanding to the family in this situation is essential. Importantly don't make any comments that could be misinterpreted as indicating a gender until all investigations are completed. Keep any initial discussions short and simple. As you examine their child you can provide some basic education about the child's genital anatomy by talking about the names for the various structures and explaining any unfamiliar medical terminology. This can be furthered by speaking gently to the baby using the name (if one has been given) or by using gender-neutral language (avoiding the terms pronouns such as 'he' or 'she').
When the examination is complete, parents should dress and hold the baby and the examiner should sit down with the parents, explain the findings and discuss the ongoing plan and follow up. Note more detailed and repeated discussions with the family will be made by paediatric endocrinologists over the following week as results of further tests become known. It is important to stress that no decisions can be made about gender assignment until after the results of the blood test and scans are reviewed and after involving other teams, such as Endocrinology and Genetics.(2)
Relevant questions to ask the family include
- Drug ingestion, infection or exposure to teratogens during pregnancy
- Any recent androgenic changes in the mother suggesting androgen excess
- History of consanguinity (suggesting autosomal recessive inheritance)
- Reduced male offspring in families on mother's side? (suggesting X-linked inheritance)
- Previous siblings dying in the newborn period
- Previous siblings with over-virilisation or precocious puberty?
Useful examination findings
- Signs of hypoglycaemia or dehydration
- Palpable gonads in the labioscrotal or inguinal regions
- Penile length and width normal. (Normal 2.5-4.5cm in full term infant)
- Positioning of the urethral opening?
- Labioscrotal fold fusion?
- Genitalia pigmentation
- Syndromic features or other physical abnormalities
- Serum electrolytes and glucose
- Chromosome analysis (this needs to be asked for urgently - a FISH for Y chromosome can be provided within 48 hours)
- Pelvic/abdominal ultrasound to determine absence or presence of a uterus. This requires an experienced sonographer and it is better done in a tertiary centre if possible. (A uterus almost always indicates no functioning testes are present while no uterus indicates functioning Sertoli cells and therefore testicular tissue.)
- 17-hydroxyprogesterone (newborn screening card for urgent 17OHP). A phone call to the national testing centre will expedite this analysis if a sample has been collected
- Other investigations should be discussed with paediatric endocrinologist
- Inform the neonatologist on call about any infant with disorders of sex development or ambiguous genitalia.
- Give parents the Newborn Services information brochure
- Paediatric endocrinology should be involved within the first 24 hours and usually coordinate the multidisciplinary team approach as well as long term follow up. Other teams commonly involved: social work, genetics, paediatric urology, child psychology, gynaecology.
Gender identity development is the result of a complex interaction between genes and environment. It is often difficult to predict what gender the child will eventually identify with. While for practical purposes assignment as male or female is usually required, there are parents who refuse to assign gender if there is marked ambiguity. All families should be supported in their decision and further ongoing follow up will occur with paediatric endocrinology long term. The role of health care professionals in initial gender assignment is to obtain and help interpret test results concerning the aetiology and prognosis of the child's DSD and concerning the status of the child's anatomy and physiology, so as to inform the parents' and assist them in the decision about gender assignment.(2)
Information for families
Newborn Services brochure on ambiguous genitalia can be downloaded / printed here . Print as double sided document and fold. Print first page, then feed back into printer-photo end leading, print side up.
- Intersex Society of North America Parent Handbook developed by the Consortium of the Management of Disorders of Sex Development www.dsdguideline.org
- Australasian Paediatric Endocrine Group Information about Disorders of Sexual Differentiation www.apeg.org.au
- Congenital Adrenal Hyperplasia Support Group NZ www.cah.org.nz
- Hughes, I. A., Houk, C., Ahmed, S. F., & Lee, P. A. (2006). Consensus statement on management of intersex disorders. Archives of Disease in Childhood, 91(7), 554-63.
- Consortium on the Management of Disorders of Sex Development (2006). Clinical Guidelines for the Management of Disorders of Sex Development in Childhood. Intersex Society of North America. www.dsdguidelines.com
Did you find this information helpful?
- Date last published: 20 August 2015
- Document type: Clinical Guideline
- Services responsible: Neonatology
- Owner: Newborn Services Clinical Practice Committee
- Editor: Sarah Bellhouse
- Review frequency: 2 years
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