Endocrine Abstracts

Klinefelter syndrome is most commonly reported sex chromosome abnormality Most patients with klinefilter syndrome have 47XXY genotype. Klinefilter mosaicism is a rare phenomenon with only 34 cases of 47XXY/46XX reported in literature of these only 2 were with female phenotype.47XXY/46XX have heterogeneity in presentation with some presenting with ambiguous genitalia some with ovatestes and few cases reported as female phenotype Our patient is a 18 year old female presented with short stature as her primary complaint since 2 year of age her growth parameters height (-6.77 SDS) and weight (-8.10 SDS) which were significantly below 5^th centile physical examination reveals no dysmorphic features no systemic anomalies and sexual maturity corresponding to tanner staging B4T2 investigation include hormonal panel bone age assessment karyotyping and imaging studies conducted Notably karyotyping and FISH analysis revealed mosaic pattern 47XXY/46XX final diagnosis established Mosaicism (47 XXY PREDOMINANT CELL LINE) with co-existing with growth hormone deficiency

Keywords: 47XXY/46XX mosaicism ,klinfelter syndrome