Endocrine Abstracts

JOINT12

Background: Primary amenorrhea can stem from a variety of etiologies, including hypogonadotropic hypogonadism, a condition frequently seen in patients with β-thalassemia major due to iron overload from repeated blood transfusions. This iron toxicity primarily affects endocrine organs, including the anterior pituitary, leading to endocrine complications.

Case Presentation: We report the case of a 17-year-old adolescent, with a history of β-thalassemia major diagnosed at birth, who presented with primary amenorrhea and growth delay. She receives blood transfusions every 21 days and chelation therapy to manage iron overload. Clinical examination revealed a weight of 30 kg and height of 145 cm (BMI = 14 kg/m²), with pubertal development assessed at Tanner stage S2 (breast) and P3 (pubic hair). Laboratory tests showed low FSH (0.97 mIU/ml) and estradiol levels (<24 pg/ml), with normal TSH. Pelvic MRI indicated uterine hypoplasia and small ovarian volume, while pituitary MRI showed anterior pituitary atrophy, compatible with iron overload. Hormone replacement therapy was considered to correct the endocrine deficiencies and promote pubertal development.

Discussion: β-thalassemia major is frequently associated with endocrine disorders, predominantly due to iron overload impacting the anterior pituitary. This disruption in hormonal secretion leads to hypogonadotropic hypogonadism, which is the primary cause of primary amenorrhea in thalassemic females. In this case, clinical and radiologic findings confirmed central hypogonadism with low FSH and estradiol levels and pituitary atrophy. Hormone replacement therapy is essential for inducing and maintaining secondary sexual characteristics and preventing long-term complications, such as osteoporosis. Despite advancements in transfusion and chelation therapies, endocrine complications remain a significant concern for thalassemic patients, particularly during adolescence.

Conclusion: Primary amenorrhea due to iron overload is a common complication in adolescent females with β-thalassemia major. This case underscores the importance of early detection and appropriate therapeutic intervention, including hormone replacement therapy, to enhance quality of life and prevent long-term complications in these patients.