ESPE2014 Poster Category 3 Growth (4) (12 abstracts)
Genotype–Phenotype Correlation in Turner Syndrome
Adel Djermane a , Asmahane Ladjouze b , Yasmine Ouarezki c , Belaid Ait-Abdelkader d , Leila Kedji b , Abdeljalil Maoudj b , Karima Berkouk b , Lakhder Griene d & Abdennour Laraba b
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%).
| Karyotype | n | Cardiac disease | Renal malformation | Thyroid disease | Clinical features | Deafness (audiogram) | Height SDS |
| No assessed | 39 | 32 | 23 | 29 | 39 | 13 | −3.07±1.14 |
| 45,X | 9 | 4 | 1 | 0 | 5 | 1 | −2.81±1.4 |
| 45,X/46,XX | 11 | 3 | 1 | 0 | 2 | 1 | −2.54±0.67 |
| 45,X/46,XiXq | 8 | 1 | 0 | 2 | 2 | 2 | −3.35±1.3 |
| Other | 11 | 5 | 1 | 1 | 3 | 2 | −3.53±1.1 |
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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