Phenotypic variations in X chromosome mutations: Two case reports

• Published in: Case reports in women's health 2019-01, Vol.21, p.e00084, Article e00084
• Main Authors: Dawkins, Josette C., Carpinello, Olivia, Hill, Micah, DeCherney, Alan H.
• Format: Article
• Language: English
• Subjects: Turner variant; X chromosome mutation
• ISSN: 2214-9112; 2214-9112
• DOI: 10.1016/j.crwh.2018.e00084

Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS. Patient 1 presented at age 17 with primary amenorrhea, cognitive delay and tall stature. Patient 2 presented at age 16 with primary amenorrhea, normal intelligence and average stature. Patient 1's karyotype revealed isodicentric X chromosome [46 X, idic(X)(q21)]. Patient 2's karyotype revealed [46 X,del(X)(q13.3)]. The stature of these patients was not affected. Estrogen therapy was required to provide secondary sexual changes promote bone health. Advances in technology and reproductive health provide an opportunity to make more specific recommendations for patients previously mistakenly diagnosed with TS. •Patients with X chromosome mutations should not be classified as Turner Variants.•The exact karyotype is useful to explain the clinical and phenotypic findings.•Advances in technology and reproductive health allow for specific recommendations.