![]() There were no clear dysmorphic features suggestive of TS. Her physical examination revealed a height of 134 cm, which was below the third percentile, and a body mass index of 36 kg/m2. She stated that she was shorter than her siblings. She was born through normal spontaneous vaginal delivery with normal developmental and mental milestones. Case PresentationĪ 22-year-old Saudi female presented at 15 years of age (March 2013) with primary amenorrhea. ![]() After being on estrogen replacement for four years, she developed a small uterus with regular menses. Her uterus was not seen by her initial imaging studies. We present a case of TS with an MGD genotype and a female phenotype. These phenotypes include normal female, TS, genital ambiguity, and male phenotype. The main presentation of patients with 45,X/46,XY mosaicism is mixed gonadal dysgenesis (MGD), but they may have different phenotypes depending on the percentage distribution of mosaicism in gonadal tissues and blood. Some TS females may carry extra cell lines, with the Y chromosome (45,X/46,XX 45,X/46,XY). Structural abnormalities of the sex chromosome (X) can be due to duplication of the long arm to form isochromosome, deletions of the long arm p or short arm q, or formation of a ring. In cases with mosaicism, 45,X cell line has one or more other cell lines with structurally abnormal or a complete sex chromosome (Y or X). ![]() reported that the typical karyotype for TS (45,X) found in 81.6% of patients followed by variable types of mosaicism in 16.8% of the patients. It has highly variable chromosomal abnormalities with a different reported prevalence between studies. Turner syndrome is diagnosed in females based on their clinical presentations and their chromosomal abnormalities. Short stature, gonadal dysgenesis, and specific somatic dysmorphic features are the characteristic features of the syndrome. Its estimated prevalence is 1:2500-3000 live-born females. Turner syndrome (TS) is characterized by a complete or partial loss of the second X chromosome in female patients.
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