Síndrome de Turner - Quando Investigar Síndrome de Turner

🎯 Schedule Your Consultation With the Specialist Now (Online or In-Person)! https://bit.ly/drcaiobruzaca 00:00 - Turner Syndrome - When to Investigate Turner Syndrome In today's video, I'll talk about Turner Syndrome, also known as monosomy of the X chromosome. Stay until the end of the video to understand all the details of this genetic condition. 00:22 - What is Turner Syndrome? Monosomy of the X chromosome, or Turner Syndrome, is a form of aneuploidy where there is an absence of a second sex chromosome, resulting in the 45,X karyotype. The X chromosome is crucial in sex determination. In Turner Syndrome, the person phenotypically is female, and the condition can be identified by several characteristics throughout development. 01:23 - Characteristics of Turner Syndrome in Prenatal and Birth Periods During the intrauterine period, fetuses with Turner Syndrome may present with increased nuchal translucency, associated with cystic hygroma and fetal hydrops, which are indicative of fetal swelling. At birth, a common characteristic is lymphedema in the hands and feet, although it is a subtle sign. 04:25 - Symptoms of Turner Syndrome in Childhood and Adolescence In childhood, one of the main characteristics is short stature, with children frequently below the 3rd percentile or with a z-score less than -2. In adolescence, a key sign is amenorrhea, the absence of menstruation, associated with short stature. 06:34 - Importance of Early Diagnosis and Treatment of Turner Syndrome Girls with Turner Syndrome frequently present with elevated FSH and LH, indicating ovarian dysfunction. It is crucial that girls with short stature be evaluated by a medical geneticist for early diagnosis and initiation of hormone treatment, which can significantly improve the development of secondary sexual characteristics and final height. 08:03 - Other Characteristics to Diagnose Turner Syndrome Dysmorphic features, such as webbed neck and pigeon chest, may be indicative of Turner syndrome, in addition to dysgenetic gonads or rudimentary ovaries, leading to the need for hormone replacement and possible infertility. In this video: What is Turner Syndrome; Characteristics of Turner Syndrome; Diagnosis of Turner Syndrome; Treatment of Turner Syndrome; And much more. Turner Syndrome - When to Investigate Turner Syndrome    • Síndrome de Turner - Quando Investigar Sín...   #genetics #geneticist #medicalgeneticist #medicine