| Abstract | Gonadna disgeneza je specifičan podskup poremećaja spolnog razvoja, obuhvaćajući različite genetičke i fenotipske varijacije. Fokusirajući se na potpunu i parcijalnu gonadnu disgenezu, ovaj rad analizira njihove kliničke prezentacije, genetičke uzroke i moguće komplikacije. Pregledom literature obrađeni su mehanizmi razvoja ovih poremećaja, dijagnostički postupci i pristupi liječenju.
Gonadna disgeneza proizlazi iz genetičkih promjena koje uzrokuju oštećenje razvoja gonada, rezultirajući potpunim ili djelomičnim poremećajem. Rad identificira najčešće oblike gonadne disgeneze kao što su 46,XY Swyer sindrom, 45,X/46,XY mozaicizam, Kallmann sindrom i Turner sindrom. Kroz analizu mehanizama spolne diferencijacije, raspravlja se o razvoju unutarnjih i vanjskih spolnih organa te njihovoj disfunkciji kod pacijenata s gonadnom disgenezom.
Dijagnostika gonadne disgeneze zahtijeva integrirani pristup koji uključuje kliničke, laboratorijske, genetičke i slikovne postupke. Kroz detaljnu anamnezu, klinički pregled i laboratorijske testove, utvrđuje se prisutnost hipogonadizma i identificiraju specifični tipovi poremećaja. Genetičke analize i radiološke pretrage dodatno pružaju informacije o uzrocima i fenotipskim varijacijama poremećaja.
Posebna pažnja posvećena je prenatalnoj dijagnostici i prepoznavanju atipičnih znakova koji ukazuju na gonadnu disgenezu. Sve ove varijante gonadne disgeneze zahtijevaju cjeloživotno praćenje i prilagođeni pristup liječenju radi osiguranja najbolje moguće kvalitete života za pacijente. |
| Abstract (english) | Gonadal dysgenesis has been investigated as a specific subset of disorders of sexual development, encompassing various genetic and phenotypic variations. Focusing on complete and partial gonadal dysgenesis, this paper analyzes their clinical presentations, genetic causes, and potential complications. Reviewing the literature, mechanisms of these disorders' development, diagnostic procedures, and treatment approaches are addressed.
Gonadal dysgenesis arises from genetic changes that impair gonadal development, resulting in complete or partial disorders. The paper identifies the most common forms of gonadal dysgenesis such as 46,XY Swyer syndrome, 45,X/46,XY mosaicism, Kallmann syndrome, and Turner syndrome, highlighting their genetic and phenotypic differences. Through an analysis of mechanisms of sexual differentiation, the development of internal and external genitalia and their dysfunction in patients with gonadal dysgenesis are discussed.
The diagnosis of gonadal dysgenesis requires an integrated approach involving clinical, laboratory, genetic, and imaging procedures. Through detailed medical history, clinical examination, and laboratory tests, the presence of hypogonadism is determined, and specific types of disorders are identified. Genetic analyses and radiological examinations further provide information on the causes and phenotypic variations of the disorder.
Special attention is given to prenatal diagnosis and recognition of atypical signs indicating gonadal dysgenesis. All these variants of gonadal dysgenesis require lifelong monitoring and a tailored approach to treatment to ensure the best possible quality of life for patients. |
