Woman With Ultrarare Rare Disease Gives Birth Through IVF in 'World First'

A woman suffering from an extremely rare condition has given birth after getting pregnant through IVF.

The 32 year old from Turin, Italy, had struggled with infertility for years as a result of Alström syndrome, local news outlet Corriere Torino reported.

Daniela, which is not her real name, told the news outlet that the baby was "an immense joy."

The baby boy was born in the Sant'Anna Hospital in Turin. Despite her condition, Daniela had always wanted to become a mother, Corriere Torino reported.

Newborn baby feet
A stock photo shows the feet of a newborn baby. A woman suffering from an extremely rare condition has given birth after getting pregnant through IVF. Florin Patrunjel/Getty

Alström syndrome is a rare genetic disorder that targets the autosomal chromosomes. It can cause vision and hearing abnormalities, type 2 diabetes, heart disease, respiratory problems, renal dysfunction and childhood obesity.

The disease is very rare and is only estimated to affect between 1 in 10,000 and 1 in 1,000,000 people. Around 1,200 individuals worldwide have been diagnosed with the condition, according to the National Organization for Rare Disorders.

The disorder can cause hyperandrogenism—a condition that causes an excess of sex hormones. This can cause irregular periods, as well as other hormonal problems such as acne and hirsutism.

The link between Alström syndrome and infertility has not been thoroughly studied. There has been one other recorded birth to a woman with the condition, in 2022, but Daniela's is the first to result from the use of IVF.

She was classed as having a high-risk pregnancy because of the many complications associated with the rare disorder and gave birth by cesarean after an increase in abnormal heart rhythms and metabolic functions, Corriere Torino reported.

The baby boy was born healthy and weighed 6 pounds and 8 ounces.

Alström syndrome is caused by a mutation of the ALMS1 gene. These genes contribute to the development of proteins in the body, which play an important role in getting the body to function properly.

When mutations like this occur, it can complicate the development of these proteins. This can cause problems relating to organ systems in the body.

Alström syndrome can affect several different organ systems but the severity of this depends on the individual.

It is not clear what types of complications Daniela has suffered because of her condition, but they usually begin from birth and develop in the first few weeks of life.

Do you have a tip on a science story that Newsweek should be covering? Do you have a question about Alström syndrome? Let us know via science@newsweek.com.

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Robyn White is a Newsweek Nature Reporter based in London, UK. Her focus is reporting on wildlife, science and the ... Read more

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