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master's thesis
ENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA
2024. urn:nbn:hr:184:660869
Marš, Lucija
University of Rijeka
Faculty of Medicine
Department of Pediatrics

Cite this document

Marš, L. (2024). ENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:660869

Marš, Lucija. "ENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:660869

Marš, Lucija. "ENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:660869

Marš, L. (2024). 'ENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 01 October 2024, https://urn.nsk.hr/urn:nbn:hr:184:660869

Marš L. ENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2024 [cited 2024 October 01] Available at: https://urn.nsk.hr/urn:nbn:hr:184:660869

L. Marš, "ENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2024. Available at: https://urn.nsk.hr/urn:nbn:hr:184:660869

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Metadata
TitleENDOKRINOLOŠKE OSOBITOSTI PRADER WILLI SINDROMA
Title (english)ENDOCRINOLOGICAL CHARACTERISTICS OF PRADER WILLI SYNDROME
AuthorLucija Marš
MentorKristina Lah Tomulić (mentor)
MentorIvona Butorac Ahel (komentor)
Committee memberSrećko Severinski (predsjednik povjerenstva)
Committee memberSrđan Banac (član povjerenstva)
Committee memberGoran Palčevski (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Rijeka
Defense date and country2024-07-12, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
PWS složen je genetski poremećaj uzrokovan gubitkom funkcije očinskih gena na kromosomu 15q11-q13, što dovodi do disfunkcije hipotalamusa. Ovaj pregledni rad prikazuje endokrinološke osobitosti povezane s PWS-om, usredotočujući se na višestruku hormonsku neravnotežu i njihove kliničke manifestacije. Ključni endokrini problemi uključuju nedostatak hormona rasta, hipogonadizam, hipotireozu, hiperfagiju, pretilost, inzulinsku rezistenciju i INŽ. Nedostatak HR pridonosi niskom rastu, smanjenoj mišićnoj masi i povećanoj adipoznosti, dok hipogonadizam rezultira odgođenim ili nepotpunim pubertetom i neplodnošću. Hipotireoza pogoršava metaboličke izazove, a hiperfagija uzrokuje ozbiljnu pretilost, zahtijevajući stroge strategije liječenja. Inzulinska rezistencija povećava rizik od ŠB2, a adrenalna insuficijencija, iako rijetka, predstavlja dodatne zdravstvene rizike. Ovim radom želi se naglasiti ključna uloga rane dijagnoze i sveobuhvatnog, multidisciplinarnog liječenja u optimiziranju rasta, razvoja i metaboličkog zdravlja kod osoba s PWS-om.
Abstract (english)
PWS is a complex genetic disorder caused by the loss of function of paternal genes on chromosome 15q11-q13, leading to profound hypothalamic dysfunction. This overview thesis examines the endocrinological peculiarities associated with PWS, focusing on the multifaceted hormonal imbalances and their clinical manifestations. Key endocrine issues include growth hormone deficiency, hypogonadism, hypothyroidism, hyperphagia, obesity, insulin resistance, and adrenal insufficiency. Growth hormone deficiency contributes to short stature, reduced muscle mass, and increased adiposity, while hypogonadism results in delayed or incomplete puberty and infertility. Hypothyroidism exacerbates metabolic challenges, and hyperphagia drives severe obesity, necessitating stringent management strategies. Insulin resistance heightens the risk of type 2 diabetes, and adrenal insufficiency, though less common, poses additional health risks. This thesis underscores the critical role of early diagnosis and comprehensive, multidisciplinary management in optimizing growth, development, and metabolic health in individuals with PWS.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:660869
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-06-30 22:40:39