Anticipatory time line for the medical care of DSD children and young adults

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S Faisal Ahmed, Paediatric Endocrinologist, RHSC Yorkhill, Glasgow, UK

Introduction

Children with DSD often present at birth if the development of the external genitalia is atypical. They can also present around the age of puberty when there are concerns about development through puberty.

Although the underlying reason for the DSD may not be clear in a number of cases, in many others we know that the different sex development may have occurred because of a problem with one or more of the glands that make sex hormones. These glands include the pituitary, adrenals, ovaries and testes.

Identification of an underlying cause can help with treating any hormone deficiencies. It also helps with anticipating any other immediate or long-term health concerns. Knowing the cause also helps with explaining the condition to the parents and the growing child and allows them to plan for the future.

The timeline for medical care will vary from one condition to another as well as the age when the child first presents. In general, when it comes to DSD, there are four facets to medical care and although they are all linked to each other, these facets could be spaced out along an imaginary timeline for the child as well as the parents.

Sex Assignment

Newborn babies are usually given a sex at birth and sex assignment is, therefore, the first step on the timeline in the care of the child with suspected DSD. A delay in assigning sex usually occurs when the health care staff who are present at delivery are not clear. Sometimes, there is a concern about sex assignment when the baby is examined in the first few days by staff after delivery.

When the sex of the newborn baby is unclear, medical staff explain this to the parents and ask them to delay naming the baby. Clarification of the sex involves a thorough examination of the genitalia and often this is sufficient when performed by a more experienced doctor in the maternity hospital. Sometimes, the baby will need to be examined by a group of specialists in the field of DSD. A number of babies require tests and usually this involves a blood test to check the chromosomes and an ultrasound scan to check the internal reproductive organs.

These tests can be done immediately after birth and, if the technology and expertise exist, they are performed at the local hospital and the results can be back within two working days. Sometimes the baby needs to be transferred to another hospital for the tests as well as examination by a specialist. Over the first week, there may be a need to do other blood tests to check hormone levels and to check whether the baby's health is alright.

In most cases, the examination of the baby, the chromosome test and the ultrasound scan are enough to decide on the sex of the child, and a decision will be reached within 2-3 days. In a very small number of cases, there may be difficulties in deciding on the sex of the baby despite these tests and additional tests may be required. It may, therefore, be necessary to delay sex assignment for a few more days. However, a delay in sex assignment for over one week is exceptionally rare these days and this author has not encountered it in his own practice over the last 10 years.

Looking After The Immediate Health

Glands such as the pituitary and the adrenals, that make sex hormones also make other hormones which are important for the health of the child. In newborns, where there are concerns about sex development, blood tests and urine tests may be performed to check these other glands.

Some tests, such as checking the blood sugar level can be performed at the bedside and the results are available immediately. For other tests, samples have to be sent to special laboratories and the results may take anything from a few days to weeks to come back.

Generally, if the doctors are concerned about the baby's health, they will start the medicines after the tests are done and then these medicines will be stopped if the results turn out to be normal at a later stage.

Finding Out The Underlying Cause

Although in some cases, the actual cause of the condition is very clear in the first month of life, in most cases, finding out the actual cause of the problem can often take a long time ranging from months to years. In many cases, the actual cause may never become clear.

Besides trying to find out the cause of the condition, tests also allow doctors to exclude those causes which they know may be associated with short-term or long-term problems of health. A short-list of possible causes also allows doctors to decide on future tests as well as care of the child. Some of the tests need to be performed in special centres and may require special skills such as scans or laparoscopy. Usually, it is better to wait and have a systematic plan to do these tests. The right plan of tests will be discussed by the specialist team with the parents, often at a special clinic where everybody is present. In most cases, the tests are performed within the first year of life and sometimes they are repeated at a later stage. Sometimes the samples are stored so that a new test which becomes available at a later stage can be performed without taking another sample. When children grow up and move to adult care it may be useful to repeat these tests.

Looking After The Long-Term Health

The effects on long-term health of the child will vary and depend on the underlying cause of the condition as well as how it has affected the child.

The DSD team in specialist centres consists of a group of specialists who are experts in their own areas such as growth, puberty and development, surgery, urology, gynaecology, psychology and genetic counselling.

Affected children and their parents may benefit from visiting such a clinic so that all the specialists can provide their input as and when necessary. Usually children with DSD attend the clinic of a paediatric endocrinologist who ensures that occasionally the child attends the special clinic run by the DSD team. At these clinics a plan will be made with the parents and the growing child about future tests and treatment. A plan can also be developed for how to explain the underlying cause of the condition to the child.

There are no fixed rules about how often a child should attend the paediatric endocrine or DSD clinic. Where there are concerns about long-term health, this author does not see any child at an interval greater than 2 years. The family should be able to change the appointment and move it earlier or later and should be able to contact the doctors by telephone or email.