Primary ovarian insufficiency in adolescent patients

ARCARI ANDREA; ESCOBAR MARÍA EUGENIA; GINACA ALEJANDRA; CARABAJAL PATRICIA; CHIAUZZI VIOLETA; DEL REY GRACIELA; REY RODOLFO; GRYNGARTEN MIRTA

Leipzig

Congreso; 51st Annual Meeting of the European Society for Paediatric Endocrinology, Lipzig, Alemania; 2012

ESPE

Background: Primary ovarian insufficiency (POI) is diagnosed when a woman younger than 40 years old has amenorrhea and serum FSH levels in the menopausal range. In the absence of oophorectomy, chemotherapy, irradiation or chromosomopathies, POI is a heterogeneous condition whose etiology remains unknown in 90% of the cases. Scanty information exists about POI in adolescence. Objective and hypotheses: To describe the phenotype and the prevalence of autoimmunity in an adolescent cohort with POI. Methods:We performed a cross-sectional study of clinical, endocrine and ovarian ultrasound characteristics of 35 consecutive POI adolescents. We analyzed clinical records of girls with pubertal delay, primary or secondary amenorrhea and two FSH levels >30 mUI/ml. Patients with Turner syndrome, oophorectomy, chemotherapy and radiotherapy were excluded. FSH and LH were measured by IFMA, serum AMH by ELISA and estradiol by DELFIA. Karyotype was performed in all patients. Screening for organ and non organ specific autoantibodies by immunofluorescence, antiovarian antibodies by immunoblotting, antibodies against FSH-receptor by a radiometric assay and pelvic ultrasound were performed. Results: Median age at diagnosis was 15.8 years. Familiar history of POI and of autoimmune disease were present in 31 % and 37% respectively. Seventy one percent presented with pubertal delay or primary amenorrhea, 29% had secondary amenorrhea. Pelvic ultrasound showed follicles in 37% of patients. In 15/32 girls various organ and non organ specific antibodies were found. Three of 5 patients (9%) with autoimmune diseases had antiovarian antibodies. AMH levels, evaluated in 13 girls, were low or undetectable. All patients had 46, XX karyotype. Conclusions: In our cohort of adolescents 9% had autoimmune diseases plus antiovarian antibodies. Besides, 31% had different autoantibodies suggesting that an autoimmune mechanism could be involved. However the etiology of POI remains unknown in a high number of patients. More specific studies are needed to clarify this point.