Phenotypic variations in X chromosome mutations: Two case reports

Authors

Josette C. Dawkins, Rochester Regional HealthFollow
Olivia Carpinello, Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Micah Hill, Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Alan H. DeCherney, Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

Department

OB/GYN

Document Type

Article

Publication Title

Case reports in women's health

Abstract

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.

First Page

e00084

DOI

10.1016/j.crwh.2018.e00084

Volume

21

Publication Date

12-29-2018

PubMed ID

30591909

Recommended Citation

Dawkins, J. C., Carpinello, O., Hill, M., & DeCherney, A. H. (2018). Phenotypic variations in X chromosome mutations: Two case reports. Case reports in women's health, 21, e00084. https://doi.org/10.1016/j.crwh.2018.e00084