Amenorrhea as the Initial Presentation in a Patient with Setpto-Optic Dysplasia

Abstract

A 16-year-old girl presented with primary amenorrhea and no pubertal hair development. She had normal onset of breast development but experienced failure to progress through puberty. Growth hormone, cortisol and gonadotropin deficiencies were detected. Brain magnetic resonance imaging examination revealed the absence of the septum pellucidum, hypoplastic anterior pituitary gland and ectopic posterior pituitary gland. Septo-optic dysplasia (SOD) with multiple pituitary hormone deficiency may be related to abnormality of the hypothalamic-pituitary axis. Long-term follow-up of endocrine dysfunction in this patient is necessary. The etiology of SOD and incomplete puberty are discussed.