Isochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas

Isochromosome mosaic Turner syndrome (IMTS) is a rare genetic variant of Turner syndrome (TS). The diagnosis of TS can be missed until adolescence or early adulthood in females with minimal symptoms. The clinical features of mosaic TS can be atypical and should be evaluated thoroughly to detect potential complications. Here, we describe a unique report of a 47-year-old woman diagnosed with IMTS, hypogonadotropic hypogonadism, and multiple meningiomas. She presented with decreased responsiveness and decreased appetite. She had primary amenorrhea, hearing loss, and visual impairment for which focused medical care was not sought. Physical examination revealed short stature, short neck, Tanner stage 3 breast, Tanner stage 1 vaginal development, and absent axillary and pubic hair, which led us to a clinical diagnosis of TS. A transabdominal ultrasound revealed a hypoplastic uterus with no visualized ovaries. A slit lamp examination revealed bilateral immature cataracts and optic atrophy. An audiogram confirmed sensorineural hearing loss. The intelligence quotient was below average. Hormonal assays showed hypogonadotropic hypogonadism and secondary adrenal insufficiency, which is not a feature of TS. This abnormal hormonal assay prompted us to do magnetic resonance imaging of the brain, which showed meningiomas in the suprasellar region and left cerebellopontine angle. Karyotyping revealed 46,X,i(X)(q10)(37)/45,X(3), which was suggestive of IMTS. The patient required a multidisciplinary approach in the evaluation, diagnosis, and management, which included hormone replacement therapy and supportive and psychological care.