Istovremeno postojanje Tarnerovog sindroma i gigantizma: atipična klinička manifestacija bez zastoja u linearnom rastu
Sažetak
Uvod. Tarnerov sindrom je jedna od najčešćih hromozomskih aberacija kod osoba ženskog pola, koja se tipično manifestuje zaostajanjem u rastu, insuficijencijom jajnika, karakterističnim crtama lica i drugim različitim somatskim poremećajima. Gigantizam je izrazito retko oboljenje koje nastaje kao posledica pojačane sekrecije hormona rasta (HR) tokom detinjstva, a pre srastanja epifiznih zona rasta dugih kostiju. Osnovna klinička karakteristika obolelih od gigantizma je visok rast, mada ove osobe tipično imaju i hipertrofiju mekih tkiva i hipogonadizam. Prikaz bolesnika. Prikazali smo bolesnicu sa Tarnerovim sindromom, zakasnelim pubertetom i normalnim linearnim rastom, nastalim zbog istovremenog postojanja hipersekrecije HR iz pituitarnog tumora. U tom slučaju, izostajale su sve fenotipske karakteristike tipične za Tarnerov sindrom. Usled pojačane sekrecije HR koji je delovao na otvorene epifizne ploče dugih kostiju, izostao je karakterističan zastoj u longitudinalnom rastu. Bolesnica je razvila sliku zakasnelog puberteta i primarne amenoreje, uz nagli razvoj kliničkih pokazatelja hipersomatotropinizma, što je i bio razlog za obraćanje lekaru u 16. godini života. Zaključak. Svi slučajevi zakasnelog puberteta koji se manifestuju bez zastoja u rastu, zahtevaju detaljno hormonsko i genetsko ispitivanje, čak i kada ne postoji tipična klinička manifestacija genetskog obolenja. Prema nama dostupnim podacima, ovo je prvi opisani slučaj istovremenog postojanja Tarnerovog sindroma i gigantizma u literaturi.
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