Turners Syndrome in a girl with an unknown marker chromosome in Karyotype: A Case Study

Yumna Arif; Suboohi Mustafa; Nasreen Aainuddin; Abiha Ahmad Khan

doi:10.37591/rrjohp.v10i2.1985

Abstract

Abstract Turners syndrome is an X-linked chromosomal disorder, in which nucleus possesses only 45X chromosomes i.e. 22 pair of autosomes and a sex chromosome XO. Absence of Y chromosome resembles female. There are some variants in which mosaic of X0/XX or even X0/XY are present. They have characteristic appearance like short stature, sexual infantilism, ovarian agenesis or gonadal dysgenesis, pattern of major and minor malformations. Patient comes with complaints of primary amenorrhoea, no breast development, short stature and such patients are usually infertile. Diagnosis is made by history examination and investigations specially ultrasound and karyotyping. Management includes multidisciplinary approach to improve quality of life, and to decrease co-morbidities and HRT. Keywords: Infertility, karyotyping, primary amenorrhoea, short stature, turners syndrome, variant Cite this Article Suboohi Mustafa, Yumna Arif, Nasreen Aainuddin, Abiha Ahmad Khan. Turners Syndrome in a Girl with an Unknown Marker Chromosome in Karyotype: a Case Study. Research & Reviews: A Journal of Health Professions. 2020; 10(2): 44–48p.