Genetic causes of combined pituitary hormone deficiency

master's thesis

• Title (croatian): Genetički uzroci kombinirane deficijencije hormona hipofize
• Author: Tamara Foro
• Mentor: Katja Dumić Kubat (mentor)
• Committee member: Katja Dumić Kubat (predsjednik povjerenstva)
• Committee member: Nevena Krnić (član povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Combined pituitary hormone deficiency is a complex disorder requiring life-long follow-up and therapy. Depending on the underlying condition, individuals may be deficient in any number of pituitary hormones and may be at risk for developing further pituitary hormone deficiencies with age. Around 30 genes were implicated in the etiology of this disorder in a variety of syndromic and non-syndromic presentations. Overall incidence of mutations in known genes in patients with CPHD is low, indicating that many genes have yet to be identified. The following text describes clinical, hormonal and imaging phenotype of specific mutations implicated in both syndromic and non-syndromic CPHD.

Abstract (croatian)

Kombinirani nedostatak hormona hipofize složen je poremećaj koji zahtijeva cjeloživotno praćenje i terapiju. O uzročnom čimbeniku ovisi koji hormoni hipofize nedostaju, a pojedinci s godinama mogu razviti daljnji nedostatak hormona. Oko 30 gena uključeno je u etiologiju ovog poremećaja s različitim sindromskim i nesindromskim prezentacijama. Ukupna incidencija mutacija poznatih gena u bolesnika s ovim poremećajem je niska, što ukazuje na to da mnoge gene tek treba identificirati. Sljedeći tekst opisuje pojedine mutacije povezane sa sindromskim i nesindromskim nedostatkom hormona hipofize te njihove kliničke, hormonalne i MRI prezentacije.

• Keywords: combined pituitary hormone deficiency; syndromic presentation; non-syndromic presentation; CPHD; anomalies
• Keywords (croatian): kombinirani nedostatak hormona hipofize; sindromska prezentacija; nesindromska prezentacija; anomalije
• Language: english
• URN:NBN: urn:nbn:hr:105:697894
• Study programme: Title: Medicine (in English language); Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Public note: Pohranitelj objekta unio ključne riječi.
• Created on: 2021-12-22 11:59:54