Medics say that congenital hypothyroidism can be detected early—in fact, as soon as a child is born. The problem, however, is that new-born babies in the country are not screened for the condition.

This, they say, needs to change as mothers take their children when it’s at an advanced stage and little can be done.

Since it’s congenital, the condition is most seen in children.

Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.

Approximately 1 in 4000 new-born babies has a severe deficiency of thyroid function, while even more have mild or partial degrees.

According to MJ Dr Florent Rutagarama, an endocrinologist paediatrician at Rwanda Military Hospital, says he currently has four cases of children born with CH; they are all on treatment to stop the progression.

In developed countries, he says the ratio of CH is 1 in 3,000 to 4,000. He adds that the condition is quite rare, and a lot more serious than other infectious and common conditions that have been prioritised when it comes to awareness and treatment.

UNDERSTANDING THE CONDITION

He says this is a condition children are normally born with and the causes are primary and secondary.

In primary causes, he says, the thyroid gland is either missing, small or located where it’s not supposed to be. This, he explains, is associated with the development of the foetus during pregnancy.

The thyroid gland is situated in the neck and secretes hormones regulating growth and development through the rate of metabolism.

"These hormones are important for many of our body’s functions and the proper development and growth of cells in the body,” he says.

He adds that the production of thyroid hormones is also affected by the functioning of certain parts of the brain (hypothalamus and pituitary).

When it comes to secondary hypothyroidism, he says the cause is failure of the pituitary gland to secrete thyroid, a stimulating hormone which is usually caused by a tumour in the region of the pituitary.

The condition could hinder a child’s psychological and motor development.Net photos

SIGNS AND SYMPTOMS

Raymond Awazi, a paediatrician at Heritage Clinic in Kigali, says, normally, the signs and symptoms of CH vary depending on the age of the child.

For instance, children with this condition may have prolonged jaundice (yellowing of the skin,) poor feeding, constipation, increased sleepiness, decreased crying, a large tongue, and an umbilical hernia among others.

Mothers, he says, are naturally concerned when their children do not gain weight, or fail to make significant progress at various stages.

Awazi says, for instance, a child has different stages, and depending on the age, they are supposed to be doing certain things; like sitting, crawling, standing, feeding on their own and so on.

"If all these are not seen or delayed, the mother should seek help. Basically, optimal care for a child with this condition includes diagnose before the child is 10 days old, and normalising of thyroid hormone blood levels by the age of three weeks,” he says.

Awazi adds that babies with this condition also show little interest in breastfeeding. Normally, he says, they are born overweight but as they grow, the weight goes down because of the inability to feed well.

Clinical features such as swelling of the eyelids, and post mature (children born after 42 weeks) should also be a concern.

In general, he says, it hinders their psychological and motor development.

SOLUTION

Over time, if untreated, experts say this condition can result in poor growth, delayed dentition, development and mental retardation.

In most cases, Rutagarama says it’s hard to prevent CH because it’s congenital.

When it comes to the treatment, he says one has to take the medication throughout life.

"When detected early and managed, a child can still live a normal life,” he says.

He says medication includes synthetic thyroid hormone that is taken orally.

In order to start medication, the child will need to have their blood checked regularly for his or her thyroid hormone level, so that the dosage can be tailored accordingly.

While giving medicine for this condition, Rutagarama says the aim is to replace what is missing, which is thyroid hormone.

The medication, he says, is supposed to be taken daily although it depends on the increase of weight; for those who are treated, they can live a long life, like any other child.

Because of kids’ growth rate, he says adjusting the treatment every now and then is important. And it will be much better if such children are assessed after every two months, to see the progression.

Although there are no local statistics, Rutagarama says, data from other developing countries (one in 3000 new-borns) should not be taken lightly.

In Rwanda, he says, there is a scarcity of means to handle the condition, as focus is mainly on communicable and non-communicable diseases, making it hard to provide appropriate treatment needed and on time.

He says that congenital hypothyroidism can’t be prevented, and so there is a need to pay attention to it, where screening is done for new-borns to detect the condition so it can be managed early.

Medics say new-born babies in the country are not screened for the condition, leading mothers to take their children when it’s at an advanced stage and little can be done.

COMPLICATIONS

Awazi says when a child is born with this condition, and they don’t get treatment, they risk mental retardation.

"This means that these children will never acquire self-sufficiency, and they will have a hard time learning because of the low IQ, among other things,” he says.

When treatment starts late, the mental retardation could be prevented from advancing, however, the child will not recover or be normal.

He says the sooner it’s detected, the better the chances of successful treatment and management of the condition.

Rutagarama notes that because thyroid hormone is also responsible for the growth of bones, not just the brain, children with this condition, when placed with others their age, always look smaller, and shorter in height.

Rutagarama adds that the difference between growth hormone deficiency and CH is that growth hormone deficiency does not affect the brain, it only affects the height but CH affects both.

editor@newtimesrwanda.com