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Patient factsheet: UK guidance on disorders of sex development in children

Print Print | Email  Email article to a friend | Last updated: October 26, 2013

This is a patient factsheet on the Society for Endocrinology’s guidance document on the initial evaluation of a child with a suspected disorder of sex development.

What information does this guidance cover?

The Society for Endocrinology, along with partner organisations, has produced a guidance document on the initial evaluation and diagnosis of children with a suspected disorder of sex development.  It is aimed at medical professionals who may encounter newborns and adolescents with these conditions.  The purpose of the guidance is to harmonise good clinical practice and standardise the UK approach in this field.  The guidance does not provide information on the clinical management of a condition once a diagnosis has been confirmed. 

What is a disorder of sex development?

Disorder of sex development (DSD) is an umbrella term applied to a wide range of conditions, present from birth, where the development of internal or external features of male or female sex are different from expected.  These conditions are most often diagnosed at birth (if the appearance of the external genitalia is ambiguous) or at puberty (for example, a boy with pubertal delay or a girl who does not start menstruation). As a group, approximately one in 300 newborns may be born with a concern about the development of the external genitalia.  In many cases, the actual cause of DSD is unclear.  In girls, causes of DSD include congenital adrenal hyperplasia which has an approximate incidence of 1 in 15,000 newborns.

Who should be involved in the diagnosis of a child with a suspected DSD?

All infants and adolescents suspected of having a disorder of sex development should be seen by an experienced multi-disciplinary team.  As a minimum, this team should include specialists in endocrinology, surgery and/or urology, clinical psychology, radiology, nursing and, for infants, neonatology.  In addition, depending on the individual patient, other specialists may be included, for example, a clinical geneticist, a gynaecologist or a plastic surgeon.

What support should be offered to the patient and their family?

The family should be assigned one doctor, usually the endocrinologist, to lead discussions with them and to bring in other members of the team when necessary.  Families should also be informed of the full range of help available to them from the multidisciplinary team and be given the contact details of all team members.

The affected child and the parents should be provided with access to specialist psychological support both during and after the diagnostic process.  In addition, any affected adolescent who requires medical/surgical attention should be routinely offered clinical psychological support.  The pace of how information is shared should be judged for each child and family setting and issues of confidentially discussed and respected.

Families should also be given the contact details of appropriate patient support groups. These groups can be very helpful to families as they can provide a sense of community and ongoing support and information to all family members.

What types of test will the doctors carry out to diagnose a DSD?

There are a wide range of tests that doctors may carry out if they suspect a child has a DSD.  The exact tests will vary between patients depending on their symptoms and these are discussed in more detail in the full guidance document.  However, the nature of these tests can be broken down into the following categories:

Family history

For newborns, this will include information about the parents’ medical backgrounds and that of their families.  It will also include questions about the pregnancy itself and maternal health throughout the pregnancy.  For adolescents, the doctor will also ask about the patient’s general health and any current conditions they may have.

External appearance

The doctors may need to examine the external appearance of the patient, including weight, height and the appearance of external genitalia.  In adolescents, doctors may also need to determine how far puberty has progressed.

Internal anatomy

The doctors may want to examine the patient to understand whether their reproductive organs are affected in any way.  To do this, the patient may undergo a scan, such as an ultrasound or a magnetic resonance imaging (MRI) scan.  The doctors may also need to perform an endoscopic examination of the genital tract or, in some cases, a laparoscopy.

Genetics

The doctors may want to carry out a test to see if the condition is caused by the patient’s genes, particularly by their sex chromosomes.  This involves a blood test being taken from the child to determine the number of chromosomes present and whether the genes on those chromosomes are all present and working correctly.

Hormone profile

There are a number of hormones levels that a doctor might want to examine.  Of particular importance is measurement of steroid hormone levels (such as cortisol and aldosterone).  In a newborn, if the doctor suspects that the baby is not producing enough of these hormones, they may ask for them to receive steroid replacement therapy as a precautionary measure before a confirmatory diagnosis is received.

The doctors may also test for the levels of other hormones such as testosterone, anti-Müllerian hormone and human chorionic gonadotrophin.

Where do I find out more information and support?

This guidance was published as a scientific paper in the following journal:

Ahmed et al. 2011. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clinical Endocrinology, 75: 12-26.

You can access the full version of this document for free by clicking here.

Further information on the clinical management of a DSD once a diagnosis has been confirmed can be found at: Hughes et al. 2006. Arch Dis Child, 91: 554-563.

In addition, there are a number of patient groups who can provide advice and support to patients and their families.  The websites of some of these groups are listed below.

Androgen Insensitivity Syndrome Support Group

Anorchidism Support Group

CAH Support Group

Kallman Syndrome Organisation

Turner Syndrome Support Society

Unique, the rare chromosome disorder support group

How was the guidance produced?

This guidance was produced by the Society for Endocrinology and is endorsed by the Androgen Insensitivity Syndrome Support Group, the Association for Clinical Biochemistry, the British Society for Paediatric Endocrinology and Diabetes, the British Society for Human Genetics, British Society of Paediatric & Adolescent Gynaecology, the British Society of Paediatric Radiology, CAH Support Group, CLIMB, the Clinical Genetics Society and the Royal College of Nursing.

A UK DSD taskforce was convened to develop guidance on the initial evaluation and diagnosis of patients with a suspected DSD.  Taskforce members took responsibility for individual sections and based their findings on observational studies and expert opinion following group discussion. Prior to publication, the guidance were subjected to open external review from the professional societies involved and their members as well as patient group representatives.  This is the first UK guidance to specifically cover the initial evaluation and diagnosis of disorders of sex development.

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