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Title:Genetic etiology of primary premature ovarian insuffiency
Authors:ID Franic Ivanisevic, Maja (Author)
ID Franić, Damir (Author)
ID Ivovic, Miomira (Author)
ID Tancic Gajic, Milina (Author)
ID Marina, Ljiljana (Author)
ID Barac, Marija (Author)
ID Vujovic, Svetlana (Author)
Files:.pdf Acta_Clinica_Croatica_2016_Franic_et_al._Genetic_etiology_of_primary_premature_ovarian_insufficiency.pdf (85,20 KB)
MD5: E82F97F9A16B87F4013794A806D17D93
PID: 20.500.12556/dkum/4dd8c092-46a6-4644-a132-8bc25cc512ab
 
URL https://hrcak.srce.hr/178101
 
Language:English
Work type:Scientific work
Typology:1.02 - Review Article
Organization:MF - Faculty of Medicine
Abstract:Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specific genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function. A positive family history of PPOI is found in 15% of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome. Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level <50 pmol/L.
Keywords:primary ovarian insufficiency, etiology, genetics
Publication status:Published
Publication version:Version of Record
Year of publishing:2016
Number of pages:str. 629-635
Numbering:Letn. 55, št. 4
PID:20.500.12556/DKUM-70368 New window
ISSN:0353-9466
UDC:618.1
ISSN on article:0353-9466
COBISS.SI-ID:91569409 New window
DOI:10.20471/acc.2016.55.04.14 New window
NUK URN:URN:SI:UM:DK:DSICNX8L
Publication date in DKUM:08.05.2018
Views:1192
Downloads:197
Metadata:XML DC-XML DC-RDF
Categories:Misc.
:
FRANIC IVANISEVIC, Maja, FRANIĆ, Damir, IVOVIC, Miomira, TANCIC GAJIC, Milina, MARINA, Ljiljana, BARAC, Marija and VUJOVIC, Svetlana, 2016, Genetic etiology of primary premature ovarian insuffiency. Acta clinica Croatica [online]. 2016. Vol. 55, no. 4, p. 629–635. [Accessed 17 April 2025]. DOI 10.20471/acc.2016.55.04.14. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=70368
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Record is a part of a journal

Title:Acta clinica Croatica
Shortened title:Acta clin. Croat.
Publisher:Klinička bolnica Sestre milosrdnice, Institut za kliničko-medicinska istraživanja
ISSN:0353-9466
COBISS.SI-ID:24114434 New window

Licences

License:CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Link:http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:08.05.2018

Secondary language

Language:Croatian
Title:Genetska etiologija prijevremene insuficijencije jajnika
Abstract:Primarna prijevremena insufi cijencija jajnika (PPIJ) je sindrom koji je obilježen hipergonadotropnom amenorejom i hipoestrogenizmom. Incidencija PPIJ je 1:10.000 kod žena starosti 18-25 godina, 1:1000 kod žena starosti 25-30 godina i 1:100 kod žena starosti 35-40 godina. U 10%-28% slučajeva PPIJ je uzrok primarnih, a u 4%-18% sekundarnih amenoreja. Bolest nastaje kao posljedica ubrzanog procesa atrezije oocita, smanjenja broja germinativnih stanica i starenja središnjeg živčanog sustava. Specifi čni geni su odgovorni za kontrolu broja oocita koji prolaze proces ovulacije i vrijeme prekida repro- duktivne funkcije. Pozitivna obiteljska anamneza PPIJ nađena je u oko 15% žena s PPIJ, što ukazuje na postojanje određene genetske etiologije. Primarna insufi cijencija jajnika (PIJ) dijeli se na primarnu i sekundarnu. U primarnu PIJ spadaju genetske aberacije vezane za kromosom X (monosomije, trisomije, translokacije, delecije) ili one vezane za autosomne kromosome. U sekundarnu PIJ spadaju kirurško odstranjenje jajnika, liječenje kemoterapijom i radioterapijom te infekcije. Simptomi su razdražljivost, nemir, gubitak libida, depresija, nesanica, dekoncentracija, napadaji vrućine, povišenje tjelesne težine, suhoća vagine i drugih sluznica. Kriteriji za dijagnozu su folikulostimulirajući hormon viši od 40 IJ/L i estradiol (E2) niži od 50 pmol/L kod žena mlađih od 40 godina.
Keywords:ginekologija, plodnost, ovulacije, etiologija, genetika


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