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Case report
Ref Number: APCP-PP-199

Mosaic Turner Syndrome With Triple X/Monosomy X Pattern in an Adolescent : Case Report

Abeykoon Jalath Rathnayake Osman Smith¹, Wickramasooriya Arachchige Chamodi Madushani Shani¹, Neel Kannangara¹
1- DGH Kegalle, Sri Lanka
Corresponding Author: Abeykoon Jalath Rathnayake Osman Smith (osmanutopia@gmail.com)
Abstract Body
Introduction: Turner syndrome is a genetic disorder affecting females, characterized bycomplete or partial absence of one X chromosome. This condition presents with short stature, delayed puberty , and various clinical manifestations. The syndrome occurs in approximately 1 in 2,500 female births, with mosaic patterns accounting for 15-20% of cases. Case presentation: A 13-year-old girl presented to the General paediatric ward for evaluation of short stature and delayed menarche. Her height was 135 cm (below 3rd percentile), weight 28 kg, and showed absence of secondary sexual characteristics with Tanner stage 1 breast development. Physical examination revealed classic Turner syndrome features including webbed neck, low posterior hairline, shield chest, and cubitus valgus. Cardiac examination was normal, and no lymphedema was observed. Laboratory investigations showed elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, consistent with primary ovarian dysgenesis. Cytogenetic analysis revealed mosaic karyotype 47 , XXX(22)/45,X(11),indicating the presence of both triple X and monosomy X cell lines. Echocardiography showed normal cardiac structure. Renal ultrasound revealed no abnormalities. Planned to start growth hormone therapy and estrogen replacement therapy . Conclusion: This case demonstrates Turner syndrome with an unusual mosaic karyotype combining triple X syndrome and classic Turner syndrome features. The 47 , XXX/45,X mosaicism represents a rare chromosomal pattern, yet the patient exhibited typical Turner syndrome phenotype, emphasizing the importance of comprehensive clinical evaluation and cytogenetic analysis in growth disorders.
Keywords: Turner syndrome; Syndrome features; Triple x monosomy
Presentation Type: Case report
Disclaimer: The Views and opinions expressed in the articles are of the authors and not of the journal.
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