Italian Woman With a Rare Genetic Disorder Has Given Birth After Conceiving Through IVF

Pregnancy and childbirth are pivotal moments in a woman's life. Sadly, not all women have the privilege to bear children due to several factors. Some women are restricted by diseases that pose high-risk pregnancies.

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A Miraculous Case of Pregnancy and Childbirth

In Turin, Italy, a 32-year-old woman has been trying to get pregnant for years but has always failed due to Alström syndrome. Despite her condition, Daniela, not her real name, had always dreamed of becoming a mother.

Daniela tried the in vitro fertilization (IVF) and got pregnant. However, she was categorized to have a high-risk pregnancy due to many complications associated with her genetic disorder. Finally, she gave birth by cesarean section after experiencing an increase in abnormal heart rhythms and metabolic functions.

The baby boy was born in the Sant'Anna Hospital in Turin, weighing 6 pounds and 8 ounces. According to Daniela, her baby has become a source of immense joy. The types of complications Daniela has suffered from her condition are still unclear, although they normally begin upon birth and develop in the first few weeks of life.

There is not enough study investigating the connection between Alström syndrome and infertility. In 2022, there was a recorded successful birth to a woman with the same condition, but Daniela is the first woman in the world with this disorder to give birth from the use of IVF successfully.

What is Alström Syndrome?

Alström syndrome is a genetic disorder that targets the autosomal chromosomes. It is rare and is estimated to affect only 1 in 10,000 or 1 in 1,000,000 people. According to the National Organization for Rare Disorders, only 1,200 persons worldwide have been diagnosed with Alström syndrome.

This disease is passed down from the parents to their offspring in an autosomal recessive pattern. This means that both copies of genes from the parents must have mutations before it manifests in the affected individual. The parents of an individual with Alström syndrome each carry a copy of the mutated gene, but they usually do not show signs and symptoms.

This disease results from a mutation of the ALMS1 gene, which plays a significant role in developing the protein needed to get the body to function properly. When these mutations occur, the gene produces an abnormally short, dysfunctional version of the ALMS1 protein. As a result, protein development becomes complicated and causes problems for the organ systems. ALMS1 protein is usually present in most tissues at low levels; hence, losing their normal function could explain how this disease affectscts many parts of the body. Various organ systems in the body can be affected by Alström syndrome, but the severity depends on each individual.

The first symptoms of Alström syndrome can first appear during the infancy stage. Continuous development of multi-organ pathology can lead to progressive loss of vision and hearing. Other symptoms include childhood obesity, cardiomyopathy, type 2 diabetes, and renal failure. The disease's severity can result in lower life expectancy that rarely exceeds 50 years.