Endocrine Abstracts

Introduction: Premature ovarian insufficiency is characterized by precocious depletion of ovarian follicles, associated with amenorrhea, hypoestrogenism and high gonadotropin levels. It afflicts 1% of the female population and in 5% cases it is due to X chromosome abnormalities.

Case report: A 22 year old previously healthy female, presented to the Endocrinology Clinic due to amenorrhea. She had no family history of amenorrhea, her menarche was at age 11 and she had normal pubertal development. She complained of transitory amenorrhea that lasted 6 months and spontaneously resumed to irregular cycles. She denied any other complaints and mentioned the desire to become pregnant. The analytical evaluation revealed: FSH 67.6 mUI/ml, LH 35.9 mUI/ml, E₂ 13.5 pg/ml; TSH, Testosterone, Δ-4AE, DHEA-SO4, 17-HO-progesterone and PRL within the reference range. β-HCG <1 U/l. Transvaginal pelvic ultrasound showed a normal sized uterus with regular endometrium, the left ovary with normal dimensions and three microfollicles, the left ovary atrophic and without follicular activity. In a second visit, hypergonadotropic hypogonadism was confirmed (FSH 86.0 mUI/ml, LH 73.8 mUI/ml, E₂ 12.9 pg/ml) and at this point she complained of progressively worsening hot flushes, that ameliorated with hormonal therapy institution. Bone densitometry studies showed osteopenia at the lumbar vertebra and femoral neck. Anti-ovary auto-antibodies were negative. Anti-mullerian hormone studies were normal. Genetic studies towards CGG sequence repetitions were negative for fragile X chromosome. The karyotype analyses revealed mosaic 47, XXX (90%)/46, XX (10%). The patient was sent to a clinic specialyzed in fertility for oocyte retrieval, but at this point there was none with viability.

Conclusion: Some women with triple X do not show any manifestations other than menstrual irregularity. In this backgrownd, premature ovarian insufficiency presents with accelerated loss of follicles. Genetic testing is part of the differential diagnosis and unexpected karyotype findings have important implications in fertility.