A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography

Article Article scientifique Rapport de cas A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography eng 2000 author Giacobino Ariane 28204 author Dahoun Sophie 22913 author Sizonenko Pierre-Claude 25042 author Stalberg Anna-Maria 27087 author Chardonnens Didier 81049 author Campana Aldo 22896 105-110 10.3109/09513590009167668 10836197 0951-3590 A well-documented case of non-mosaic Turner syndrome, with spontaneous pubertal development and ovulatory cycles is reported. Mosaicism could be excluded both by karyotyping of 172 metaphases of blood lymphocytes and fibroblasts, and by fluorescence in situ hybridization, using an X-centromeric probe, in 200 blood lymphocyte nuclei. This Turner syndrome patient underwent normal pubertal development, with spontaneous menarche at 14 years, followed by regular monthly periods. Hormonal measurements performed during puberty were consistent with the patient's pubertal development. At the age of 26 years the patient was referred for complete fertility evaluation. Detailed hormonal analyses were performed in a given cycle. They showed midluteal phase estradiol and progesterone values within the range corresponding to normal ovulation and corpus luteum function. In the same cycle, pelvic ultrasonography was also performed at days 13, 15 and 18. It demonstrated a spontaneous ovulation, with follicular rupture that occurred between days 15 and 18. This is the first report of a spontaneous ovulation in Turner syndrome evidenced, not only by hormonal analysis, but also by ultrasonographic demonstration of follicular rupture. Adult Estradiol/blood Female Follicle Stimulating Hormone/blood Humans In Situ Hybridization, Fluorescence Karyotyping Luteinizing Hormone/blood Mosaicism Ovary/ultrasonography Ovulation Progesterone/blood Puberty Turner Syndrome/genetics/physiopathology/ultrasonography Dewey 576.5 Dewey 618 135 Département de médecine génétique et développement 21D 58 Département de pédiatrie, gynécologie et obstétrique 223 false 580 Groupe Giacobino Ariane (génétique) 923 Gynecological endocrinology 14 2 bbf56db2-f116-4952-8e56-45c04c2e568b Article (Published version) Restricted 105-110.pdf 500458 application/pdf restrictedAccess Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Title	Published in	Access level	OA Policy	Year	Views	Downloads

A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography	Gynecological endocrinology			2000	616	0

Archive ouverte UNIGE

Stalberg, Anna-Maria