ESPE Abstracts (2014) 82 P-D-3-3-869

Genotype-Phenotype Correlation in Turner Syndrome

Adel Djermanea, Asmahane Ladjouzeb, Yasmine Ouarezkic, Belaid Ait-Abdelkaderd, Leila Kedjib, Abdeljalil Maoudjb, Karima Berkoukb, Lakhder Griened & Abdennour Larabab

aDepartment of Paediatrics, EPH Gouraya, Tipaza, Algeria; bDepartment of Paediatrics, CHU Bab El Oued, Algiers, Algeria; cDepartment of Neonatology, EPSP Baraki, Algiers, Algeria; dLaboratory of Hormonology, CPMC, Algiers, Algeria

Background: Short stature and gonadal dysgenesis are the two characteristic clinical features of Turner syndrome (TS), but multiple systems may be affected.

Aims: To evaluate TS prevalence in girls presenting with short stature; and to establish a correlation between karyotype and associated features.

Subjects and methods: Retrospective study of all patients diagnosed with TS (December 2007–March 2013).

Results: (as mean±S.D.) Of 469 girls referred with short stature, 46 (9.8%) were diagnosed with TS on the basis of clinical features and elevated FSH, with karyotype confirmation in 39 (8%). Age at diagnosis was 8.6±5.3 years, with four girls (9%) diagnosed during infancy and delayed diagnosis until adolescence in 17 (37%). Height at diagnosis was −3.07±1.14 SDS. After infancy, short stature was the most common presenting feature (89%). Girls with 45,X/46,X, iXq or 46,XiXq karyotypes were i) shorter than 45,X girls (height SDS 3.35±1.3 vs −2.81±1.4); ii) more likely to have hypothyroidism (7%), and iii) sensori-neural deafness (15%).

Table 1.
KaryotypenCardiac diseaseRenal malformationThyroid diseaseClinical featuresDeafness (audiogram)Height SDS
No assessed393223293913−3.07±1.14

Conclusions: A significant proportion of girls referred with short stature have TS. Mosaic karyotypes are most common. Phenotypic features including renal malformations, cardiac disease, and dysmorphic features are correlated with degree of X chromosome loss; structural anomalies with thyroid disease. Mean age at diagnosis of TS is relatively late, a situation which could be improved by providing appropriate measuring equipment for school doctors to the existing community child health program in Algeria.

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