ESPE Abstracts (2022) 95 P2-252

1Department of Pediatrics, Medical University Pleven, Pediatric Clinic, UMHAT “G. Stranski”, Pleven, Bulgaria; 2First Pediatric Clinic, UMHAT "Sveta Marina", Varna, Bulgaria; 3Department of Pediatrics, Medical University, Varna, Bulgaria; 4Department of Medical Genetics, Medical University, Pleven, Bulgaria

Introduction: Premature ovarian failure (POF) is defined as a heterogeneous disease leading to amenorrhea and ovarian failure before the age of 40 years. It is found in 1-3% of women of reproductive age, with some negative consequences such as cardiovascular disease, osteoporosis and sexual dysfunction. Triple X syndrome is characterized by POF with primary or secondary amenorrhea, tall stature, large feet. Girls with triple X syndrome show accelerated growth until puberty, occasionally delayed speech development, and low self-esteem. They often need of psychological, behavioural and educational support.

Case presentation: We present two patients with triple X syndrome. Patient 1 was a girl at age of 16.7 years with secondary amenorrhea three years after menarche. On initial examination her Tanner stage was B4P5A4. The girl had tall stature (90р), rougher facial features, and no speech problems, communication or learning difficulties. The hormonal profile showed hypergonadotropic hypogonadism and undetectable level of AMH. The karyotype was revealed as 47, XXX. The pelvic ultrasound and MRI confirmed normal uterus without atretic follicles in ovaries. To reduce the risk of osteoporosis and cardiovascular disease, the girl was started on gestagen/ethinylestradiol replacement therapy. Psychological support was provided. She was referred to a reproductive health center for oocyte cryopreservation. Patient 2 is a 17 years old girl with tall stature, scoliosis, mild mitral insufficiency, and normal menstrual cycle 4 years after menarche. She also had normal neurological and psychological development. The hormonal profile showed normal levels of gonadotropins and estradiol, but low level of AMH, indicating diminished ovarian reserve. Pelvic ultrasound was normal. Oocyte criopreservation was recommended.

Conclusion: The presented patients show the need for comprehensive approach in girls with tall stature with or without secondary amenorrhea. Cytogenetic analysis should be considered even in the absence of hypergonadotropic hypogonadism and secondary amenorrhea. As shown, patients with Triple X syndrome may have diminished ovarian reserve even without the presence of menstrual irregularities. Early diagnosis, evaluation of ovarian function and the currently available new reproductive technologies are an opportunity to preserve their fertility and quality of life.

Key words: premature ovarian failure, triple X syndrome, amenorrhea

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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