Chromosome test for short girls

Recently, both parents of children attending outpatient clinics and parents of children consulting online do not understand that female children with short stature should undergo chromosome testing and are reluctant to do so. I will explain here. There is a disease that only female children get, but not male children, and before they reach puberty, these children are mainly diagnosed with short stature, and most of them are diagnosed in pediatrics or pediatric endocrinology. This is a congenital chromosomal abnormality caused by the disease. The normal female chromosome is 46,XX, if the karyotype is 45,XO , i.e. missing a sex chromosome X, or 46,XXP or 46,XXq or its chimerism, according to which Turner’s syndrome can be diagnosed. Due to the sex chromosome abnormality, the ovaries are unable to grow and develop, and therefore they are striated and fibrous, with no primordial follicles and no eggs. The clinical features are short stature, rarely exceeding 150 cm in height in adulthood, low hairline at the neck, even up to the shoulders, and a short, thick neckline. More than half of the neck skin is flaccid, from the mastoid behind the ear to the peak of the shoulder, with a webbed neck (called cervical Pu), a wide chest with a shield shape, elbow exostosis, outwardly displaced nipples, congenital aortic stenosis with amenorrhea and rudimentary secondary sexual characteristics, increased FSH and extremely low estrogen in the body. Any treatment for this disease will not promote ovarian development and will not allow the patient to regain fertility. The aim of treatment is to promote height, stimulate breast and reproductive organ development, etc. Therefore, if the short stature is in a girl, it is important to have a chromosome test to see if it is Turner’s syndrome.