ECE2018 Poster Presentations: Reproductive Endocrinology Female Reproduction (48 abstracts)
A new balanced autosomal translocation as a cause of premature ovarian insufficiency
Nuria Perez 1 , Mauro Boronat 2 , Yaiza Garcia 3 , Maria Pino Alberiche 4 , Maria Lopez-Madrazo 5 , Rosa Sanchez 6 , Javier Novoa 6 & Carlos Rodriguez 6
1Hospital Insular de Gran Canaria, Las Palmas de GC, Spain; 2Hospital Insular de GC, Las palmas de GC, Spain; 3Hospital Insular de GC, Las Palmas de GC, Spain; 4Hospital Insular de GC, LPGC, Spain; 5HUIGC, LPGC, Spain; 6Hptal Insular de GC, LPGC, Spain.
Premature Ovarian Insufficiency (POI) is defined as impairement of ovarian function in women under 40 years, with a incidence between 1-4% in women of reproductive age. Among the major identified causes of Premature Ovarian Insufficiency, genetic factors related with X-chromosome are widely described. However, autosome defects are less common found and are related generally with genetic mutations instead of structural abnormalities of them. Thefor, we report a relevant case of POI with balanced translocation between chromosomes 9 and 10. Our patient had puberal development and her first menstrual period at the age of 12, both spontaneously. After 2 years of regular cycles, she stopped menstruation. Laboratory investigations showed FSH and LH within menopausal range, with estradiol <50 pg/ml. Ultrasonography demostrated small uterus and left ovary, right ovary was not seen. Genetic testing showed karyotype 46,XX,t(9;10)(p24;q23). It should be noted that 9p24.3 region codes for DMRT1 an DMRT2 genes, which encode for transcription factors involved in indifferent gonad formation. Finally, this autosomal translocation is not yet described as a cause of POI.
Volume 56
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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