ESPE Abstracts

Background: Turner syndrome (TS) is the most common genetic disorder. Genotypically, they can be classified depending upon karyotype like monosomy, abnormal X chromosome and mosaics. Short stature and premature ovarian failure are the most consistent features of turner syndrome. However, the presentation of other clinical features is quite varied.

Objective: To determine correlation between Genotype & Phenotype in Turner syndrome.

Methods: Retrospective review ofl genetically proven cases of Turner syndrome presented at the department of Paediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children’s hospital Lahore over the last 2 years. These patients were divided into two groups based on their karyotype. Group A includes children with classical monosomy (45, XO) and group B includes children with X chromosomal abnormalities and mosaic.

Results: Total 21 cases of Turner syndrome were reported with the mean age of presentation 9.1 years (4 m – 14 yr). Female was the most common gender at presentation (16 cases, 76%) and 5 cases (24%) were living as male. Monosomy (45, XO) was the most common karyotype (09 cases, 43%), followed by mosaic (08 cases, 38%) and abnormal X chromosome (04 cases, 19%). The mean age of presentation in group A was 10.8 (7-14) years, however, group B was 7.4 years (4m – 14 years). Short statues (8/9, 89%) and delayed puberty (8/9, 89%) were the most common clinical presentation in group A. However, 50% (6 cases) of group B presented with short stature and delayed puberty and 50% (6 cases) presented with atypical genitalia. Among these atypical genitalia 5 cases were mosaic and 1 was abnormal X chromosome. All children in group A were having one or more dysmorphic feature, but its frequency in group B was 58 % (07 cases). Group A has more incidence of cardiac lesion (4/9, 44%) as compared to group B (2/12, 17%). Autoimmune association was found to be more prevalent in group B (42 %) as compared to group A (33%)

Conclusion: Turner syndromes present with different karyotypes including monosomy, mosaic, and abnormal X chromosome. Children with turner mosaic presented early due to atypical genitalia. Monosomy seems to have increased tendency of dysmorphism, and cardiac lesion as compared to other karyotypes. However, autoimmune association was found to be more common in mosaic and abnormal X chromosome.