Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infertility, it may be due to autoimmune lymphocytic oophoritis and, when accompanied by other autoimmune diseases, may be part of APSs.
Case presentation: We present a case of APS2 with POF that successfully underwent to oocyte cryopreservation. The patient has been followed up since the age of 5 years when she had been diagnosed for celiac disease. Since then she had strictly performed gluten free diet. She showed thyroid ultrasound suggestive for thyroiditis since the age of twelve and presented persistent anti-thyroid antibodies 2 years later, but never needed for L-thyroxine replacement. She had menarche at 14 years old with normal cycles for 4 years, followed by oligomenorrhea for 56 months and then secondary amenorrhea at the age of 21 years. Biochemical investigations showed hypergonadotropic hypogonadism and adrenal insufficiency with positivity of ovarian and adrenal autoantibodies. The patient underwent ovarian hyperstimulation with recombinant FSH (follitropin alpha) along with GnRH antagonist. Oocyte retrieval was performed after 57 days of stimulation. 13 oocytes were retrieved and cryopreserved with vitrification.
Conclusion: To our knowledge this is the first case of POF due to APS2 that underwent successfully to oocyte cryopreservation. APS2 is a rare disorder that could involve many endocrine organs; in order to preserve fertility, it is important to screen periodically these patients to identify precociously women at high risk.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology