1. Premutacja FMR1 jako przyczyna przedwczesnego wygasania czynności jajników u 17,5-letniej pacjentki, trudności diagnostyczne, opis przypadku i przegląd piśmiennictwa.
- Author
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Klecz, Zofia, Lecka-Ambroziak, Agnieszka, Szarras-Czapnik, Maria, Skórka, Agata, Walewska-Wolf, Małgorzata, Moszczyńska, Elżbieta, and Szalecki, Mieczysław
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ENDOCRINE diseases , *MENSTRUATION disorders , *ETIOLOGY of diseases , *BONE density , *AUTOIMMUNE thyroiditis , *METABOLIC disorders - Abstract
Premature ovarian insufficiency (POI) defined as a resolution of menstruation and ovarian function before 40 years of age, affects about 0,01% young women under 20 years old [1-3]. Hormonal tests reveal elevated FSH, low estradiol and anti-Muellerian hormone level (AMH) [1-3]. The etiology of POI is highly heterogenous, it manifests as primary or secondary amenorrhea. Diagnostic process includes several genetical disorders, endocrine or metabolic diseases, autoimmune processes or iatrogenic procedures [1,2,4]. Main health problems are low fertility or infertility, psychological problems and metabolic effects of hypoestrogenism leading to low bone mineral density and cardiovascular diseases. For these reasons hormone replacement therapy should be applied in patients diagnosed with POI [1,2,5]. We present the case of 17,5 year-old girl with autoimmune thyroiditis (hypothyroidism) and POI, presenting secondary amennorrhoea at the age of 15 with no familiar history of menstruation disorders, and literature review. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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