An Information Guide for Parents
life, there are additional consequences of lack ofthyroid hormone. Babies with Congenital Hypo-thyroidism have the following features:
1. Slowness of Growth
While thyroxine appears not to be necessary forgrowth before birth, it is essential for normalgrowth after birth. If a baby has an untreatedthyroid deficiency, he or she will remain smallthrough infancy and childhood and end up beingvery short. This slowness of growth affects allparts of the body, including the skeleton.
2. Slowness of Mental Development
Intellectual retardation can occur with lack ofthyroxine. The degree of retardation is depend-ent upon the severity of the deficiency of the thy-roid hormone. When there is only a partial lackof thyroxine, little deterioration in mental functionmay occur. When thyroxine is completely ab-sent and the baby receives no treatment, mentalretardation may be severe. However, this willnot occur if treatment is begun early. (See sec-tion on Outlook for Babies with Permanent Con-genital Hypothyroidism).
3. Persistent Jaundice
As defined in the glossary, the term jaundicemeans that the skin has a yellow colour due tothe presence of the pigment bilirubin. It is com-mon for newborn babies to have jaundice whichmay last for a week or two. In untreated hypo-thyroidism, jaundice may persist for much longerthan this.
TYPES OF CONGENITAL HYPOTHYROIDISM
We can divide patients with Congenital PrimaryHypothyroidism into four groups, as follows:
1. Those with an absent thyroid gland(Athyrosis)
In this group, the thyroid gland has failed to de-velop before birth. The gland is absent and willnever grow. Consequently no thyroxine is pro-duced. This condition is called thyroid agenesisor athyrosis. It is more common in femalescompared to males – about twice as many girlsas boys are affected. It occurs about onceevery 10,000 births and accounts for about 35%of the cases detected by Newborn Screening.The reason why the thyroid gland fails to de-velop in these babies is presently unknown.However, research into the condition suggeststhat one of a cascade of genes involved in form-ing the thyroid gland is not turned on at the righttime.
2. Those with an ectopic thyroid gland
In these babies, the thyroid is small and poorlyformed and does not occupy its normal positionin the neck. It is often found at the base of thetongue, near the place where the gland first be-gan to form in the embryo. An ectopic thyroidmay have varying degrees of function. Some-times it is very small and under-active. On otheroccasions, it is able to produce a nearly normalamount of thyroid hormone. Thus there is aspectrum of severity in this condition. We knowthat after birth an ectopic thyroid gland will notbecome bigger or descend to its normal posi-tion. In fact, its function will often deteriorate fur-ther with the passage of time.Ectopic thyroid glands also occur about twice asfrequently in girls as in boys. They account forabout 50% of the cases detected by NewbornScreening and so are slightly more commonthan the cases of thyroid agenesis. Again, wedo not know for sure why in some babies thethyroid gland remains in an ectopic position, butthe same factors that cause thyroid agenesismay well give rise to this problem.
3. Those with a malformed thyroid gland inthe normal position
This condition is sometimes called thyroid hy-poplasia and it only accounts for a very smallpercentage of the total number of cases. In thy-roid hypoplasia, the gland is small, poorlyformed and occasionally consists of only onelobe.
4. Those who have a thyroid gland whichhas developed normally, but which cannotproduce normal amount of thyroxine
This condition is known as thyroid dyshormono-genesis and it accounts for about 15% of thecases detected by Neonatal Screening. Dyshor-monogenesis (enzyme defects) can be eithertransient, in which case it gets better with thepassage of time, or else it is permanent andlasts for life. In babies affected with dyshor-monogenesis, the thyroid gland is oftenenlarged and may be seen or felt in the front ofthe neck as a goitre. We will now explain inmore detail its underlying causes.Firstly let us consider permanent dyshormono-genesis. You will recall that the thyroid hormone,