A rare case of an Isochromosome Mosaic Turner Syndrome

ABSTRACT

@#Turner syndrome is characterized by a complete or partial absence of one X chromosome. The most common karyotype is 45,X0. A variant of Turner syndrome is Isochromosome Mosaic Turner syndrome which presents with an abnormality of the chromosome structure. This is a case of a 22 year old female who presented with short neck, widely spaced nipples, low posterior hairline, absence of nose bridge, minimal axillary hair and underdeveloped breasts. Ultrasound examination showed an infantile uterus with small ovaries. Her karyotype showed an isochromosome of the long arm of the X chromosome and the remaining eight cells showed a loss of one X chromosome, resulting in monosomy X (ISCN 46,X,i(X)(q10)[42]/45,X[8]). Hormonal evaluation showed a hypergonadotropic and hypogonadism state. Test results for auditory, ophthalmologic, cardiac and renal functions were all within normal limits. The patient was diagnosed with isochromosome mosaic Turner syndrome and started on hormonal therapy.