Rođenje zdravog deteta od oca sa Klajnfelterovim sindromom nakon preimplantacionog testiranja
Sažetak
Uvod. Većina muškaraca sa nemozaičnim 47, XXY Klajnfelterovim sindromom (KS) su azoospermični i donedavno su smatrani potpuno neplodnima, sa izrazito nepovoljnom prognozom muškog fertiliteta. Međutim, potvrđeno je da neki muškarci sa nemozaičnim KS imaju spermatozoide u ejakulatu, mada je kod svih prisutan težak oblik oligoastenoteratozoospermije. Uprkos visokoj stopi fertilizacije sa postupkom intracetoplazmatske injekcije spermatozoida (ICSI) korišćenjem spermatozoida muškaraca sa nemozaičnim KS, kao kumulativnoj stopi fertilizacije koja iznosi 53%, ipak incidencija živorođenja kod njih nakon ICSI veoma je niska i iznosi jedan od osam slučajeva. Prikaz bolesnika. Na Klinici za ginekologiju i akušerstvo Kliničkog centra Vojvodine u Novom Sadu uspešno je sproveden postupak vantelesne oplodnje spermom muškarca sa nemozaičnim KS, uz odabir embriona preimplantacionim genetskim testiranjem. Euploidni embrion prenesen je u matericu majke u njenom narednom, prirodnom ciklusu. Porođaj je bio spontani, vaginalni, prezentacija potiljačna, u 40 + 3 gestacijskoj nedelji. Rođen je zdrav dečak, telesne mase (TM) 3 950 g i telesne dužine (TD) 55 cm. Njegov Apgar skor (AS) iznosio je 10/10. U uzrastu od 12 meseci, na Brune-Lezin-ovoj skali psihomotornog razvoja dečak je pokazao uredan psihomotorni razvoj. Zaključak. Zbog povišenog rizika od nastanka hromozomskih aberacija kod embriona (abnormalnosti na polnim ili autosomalnim hormozomima) kod parova gde muškarac ima Klajnefelterov sindrom, primenom preimplantacionog genetskog testiranja bira se jedan euploidan embrion, čime se skraćuje vreme do ostvarivanja trudnoće, smanjuje se verovatnoća spontanog pobačaja, verovatnoća višeplodne trudnoće i njenih eventualnih komplikacija, čime se smanjuje potreba za invazivnim prenatalnim dijagnostičkim procedurama i rizici eventualnih, njima izazvanih komplikacija, kao i rizici završetka trudnoće u kasnijoj gestaciji u slučaju patološkog nalaza kariotipa ploda klasičnim dijagnostičkim procedurama.
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