Background: Premature ovarian failure (POF) is uncommon in pediatrics and when occurs during the adolescence is typically iatrogenic or due to chromosomal anomaly. Also many genes have been identified that contribute to the development of POF, and most of these mutations are extremely rare.
Objective: We describe a case of 15 years old female presented short stature and secondary amenorrhea, after a normal puberty but without peak height velocity. She was well being with no history of illness, drugs or radiation and no family history of ovarian insufficiency.
Results: Clinically besides short stature (−2 SDS), we highlighted an involution of secondary sexual characteristics with very small mammary gland (4 cm). Laboratory findings revealed eleveted gonadotropins (LH 65 U/l, FSH 185 U/l) confirmed by LHRH test (peak LH >250 U/l, peak FSH >200 U/l) that allowed to diagnose an hypergonadotropic hypogonadism. Kariotype was normal and adrenal and ovaries antibodies were negative. Pelvic imaging by tras-abdominal ultrasound and MRI showed a very small ovaries and uterus. We started with estrogen replacement therapy, until the dose of 10 μg/die. She had regular mestrual bleending and an adult development of uterus and mammary gland. She received a GH replacement therapy to improve the final height and she catch her target height. Nevertheless the last abdominal MRI failed to identify the ovaries.
Conclusion: Probably a genetic etiology, maybe a gonadotropic receptor dysfunction, is implicated but the certain cause still remain not known.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology