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Undiagnosed Turner Syndrome worries medical experts

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Medical experts have called for support of girls with Turner Syndrome (TS) to have early detection and treatment, as many cases remained undiagnosed in Nigeria.

Dr Tokuinbo Jarrett, a Paediatric Endocrinologist, and Dr Adefemi Afolabi, an Endocrinologist Surgeon, made the appeal in Ibadan on Monday while speaking on ways to help patients with turner syndrome.

Jarrett said Turner Syndrome (TS) is not a disease, but a chromosomal disorder that is genetic in girls that occurs at random; when an error leads to the missing of x-chromosome in the sperm or egg of the parent, so the TS girl has only one x instead of two.

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“We have no data presently on the prevalence in Nigeria, because of how expensive genetic tests are; to make a definitive diagnosis of TS you need to carry out a Karyotype on the girl or woman to show the chromosomes and one can see the missing one.

“The major problem that brings TS girls to the hospital is short stature; any short girl is advised to have a karyotype done which is about N180,000.

“The girl could have certain features that are peculiar to the TS but not all of them will have these; some appear perfectly normal until they are extremely short for age and growing stopped,” he said.

The paediatrician further stated that “there is a wide spectrum of problem that individuals could have at different stages of life which include heart problems, especially coartation of the aorta.

“Others are cardiovascular issues including high blood pressure, hearing problem, reproductive issue because ovaries die out pretty early in life, bone, skin and dental problem, among others”.

Jarrett further said early detection and treatment is key to TS, though it is expensive and could cost about N2 to N3 million yearly for a girl.

“Limitations here are numerous because it is capital intensive and the key treatment is administering growth hormone to help growth; apart from other forms of follow up periodic screening for hearing of heart.

“And liver, bone as well as kidney aside other hormonal problems. Also, fertility is possible if there are egg banks and reproductive treatment is available.
“I have patients who have TS but can’t afford the treatment hence they are condemned to a life of misery whereas in the developed countries growth hormone is covered by the insurance company,” she said.

Afolabi however called on parents whose children have been diagnosed to have TS to organise themselves in to group as it is being done in developed countries to make accessing drugs for treatment easy for their wards.

“The growth hormone needs to be administered before bones become fused; at puberty people grow taller, if you don’t give this growth hormone at the time we need to give it then the child will remain at that height forever.

“In the developed countries people who have similar disease or condition their parents come together to form an association or group where they can receive help and can have pharmaceutical companies sell drugs for them at a subsidised rate.

“But here in Nigeria we are ashamed and afraid of whatever we are going through; there is the need to render support because we have people who are discouraged physically, emotionally and mentally,” Afolabi said.

Mrs Muyi Willoughby, the mother of a 14-year-old girl who was diagnosed of TS in 2016 during a routine doctor’s appointment at the University College Hospital, Ibadan, urged Nigerians to come to her aid.

“The treatment is very expensive and the condition is so rare that most people don’t even understand it; we need to create awareness, so that there would be early diagnoses and treatment of the syndrome.

“We need about N7 million to treat Gbemisola; the growth hormone alone cost N5 million, as she would need 91 pins for the first year, there are other tests which she will undergo before, during and at the end of the treatment of the first 12 months.

“She needs to commence treatment now, or it will be too late; she should have started the treatment in January 2017, but we were unable to raise the money.”

Willoughby further said: “Our daughter, who is 14 years, worries about the fact that she is not growing as she should and that all the physiological changes of adolescence are not happening.”

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