Home » She becomes a mother despite Alstrom’s syndrome, the first case in the world in Turin. “miraculous event”

She becomes a mother despite Alstrom’s syndrome, the first case in the world in Turin. “miraculous event”

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She becomes a mother despite Alstrom’s syndrome, the first case in the world in Turin.  “miraculous event”

Occurred at Torinoall’hospital Sant’Anna, the first case in the world of a birth after medically assisted procreation in a woman affected by Alstrom’s syndrome. «An event that seems miraculous», commented Giovanni La Valle, director general of the Città della Salute in the Piedmontese capital, while the new mother, a 32-year-old lady who lives with her partner in the province of Turin, smiles: «it happened and it’s beautiful”.


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Alstrom syndrome, what is it

Alstrom’s syndrome is a very rare disease caused by a mutation of the Alms1 gene which causes alterations in organ function. Until 2015, the cases known and described in the medical-scientific literature were approximately nine hundred. Among the disturbances that signal the existence of the syndrome are photophobia, heart failure, obesity, diabetes. In the woman it had manifested itself with hypertension and hearing discomfort.


The couple had fertility problems. The doctors proceeded with an in vitro fertilization with direct injection of the sperm into the oocytes. The patient underwent ovarian stimulation. After the outcome of the pre-implantation genetic investigation, a single embryo was transferred into the uterus, which resulted in the pregnancy. “I didn’t expect to be pregnant, but it happened,” says the lady. At the thirty-eighth week a slight worsening of the cardiovascular and metabolic functions convinced the team led by Chiara Benedetto to perform a caesarean section.

A baby was born in excellent health, weighing 3,110 grams, who is already at home receiving care and pampering from his mother. «All the doctors who have followed me in recent months – says the 32-year-old – have been very good. Starting with the gynecologist Andrea Carosso (who has followed the path of assisted medical procreation – ed). The doctor who gave me birth was exceptional. I will thank you forever.” The regional councilor for health, Luigi Icardi, sends “congratulations to the professionalism of the medical team” and “best wishes to the new parents” via social media. «Once again – declares La Valle – the City of Health confirms that it is an excellence on an Italian and world level.

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