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  • Essay / A Case Study of Triple X Syndrome

    Table of ContentsIntroductionCase ReportDiscussionConclusionTriple Due to its less distinct features and variation in patterns, the patient remains undiagnosed. This disorder has greater socio-psychological implications on the patient's health. A case study of triple X syndrome (47, XXX) is compared to two other previously published case studies of other patterns. Infertility and amenorrhea are the main characteristics of this syndrome. Cytogenetic analysis (karyotyping) revealed confirmation of Triple X syndrome by the presence of an additional X chromosome. This study aims to explore the different models of Triple X syndrome from a comparative study in order to improve a better and deeper understanding of the disorder. Say no to plagiarism. Get a tailor-made essay on “Why violent video games should not be banned”?Get the original essayIntroductionTriple X syndrome is one of the most common genetic syndromes that women are affected with with a frequency of 1 female birth living in 1,000. This syndrome is characterized by an additional X chromosome and therefore represented by 47, XXX. This disorder is believed to be due to a random error during the meiotic division of the mother's or father's gametes. In some cases, the error occurs during embryo development, resulting in mosaic Triple X syndrome, in which only a few cells have an extra X chromosome. The following case study focuses on Triple Triple X mosaic (45, ) with complaints of lack of normal menstrual flow and inability to conceive with itching and skin lesions in the extremities. . She was 1.70 m tall and weighed 44 kg at the time of her visit. She was conceived when her mother was 36 years old. She has 3 older sisters who were all able to conceive without any difficulty. No history of consanguineous marriages or genetic abnormalities in the family. Menarche was 12 years old. Her academic record and intelligence quotient (IQ) were average and she had completed her education up to 12th grade. She married a 28-year-old man at age 19. Endocrinology tests revealed that her luteinizing hormone (LH) levels were 9.78 mIU/mL and follicle-stimulating hormone (FSH) levels were 16.01 mIU/mL. His Estradiol level was 22.10 pg/mL. Transvaginal ultrasound of the pelvis showed a retroverted uterus measuring 4 cm. The uterine end of the cavity contained an echogenic lesion measuring 1.2 × 0.8 cm. the right ovary appeared smaller than normal, measuring 2.2 × 1.0 cm, and no follicular activity was observed. The left ovary measured 2.2 × 1.0 cm and contained one follicle. Anti-Mullerian hormone (AMH) levels were less than 0.1 ng/mL (normal = 0.9-9.5 ng/mL). A G-band karyotype of peripheral blood was performed. 20 cells were counted and analyzed and all counted cells showed the presence of an extra X chromosome. DiscussionIn the case of patients with Triple X (47, XXX) syndrome, there are distinct symptoms. Toddlers have a delay in language development. They exhibit accelerated growth until puberty. The electroencephalogram (EEG) abnormalities seem rather.