BSPED2012 Poster Presentations (1) (66 abstracts)
Karyotype-phenotype correlations in height and pubertal outcomes of Turners patients
Angela Page 1 , Elaine O’Shea 2 , Julie Jones 2 , Indi Banerjee 2 , Raja Padidela 2 , Rakesh Amin 2 , Mars Skae 2 , Leena Patel 2 , Peter Clayton 2 & Sarah Ehtisham 2
1Manchester University, Manchester, Greater Manchester, UK; 2Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, Greater Manchester, UK.
Introduction: Turner syndrome (TS) is caused by the absence of all or some of the second sex chromosome. Consequences include short stature and ovarian failure. This study aimed to characterise karyotype-phenotype correlation in patients with TS.
Methods: This was a retrospective audit of TS patients from the young person’s endocrine clinic (YPC). The karyotype, final height, pubertal progress and treatment were recorded for each patient and outcomes were compared by karyotype category.
Results: We identified 37 TS patients in the YPC aged 17–24 years. 24% had 45XO, 76% had other karyotypes (mosaicism or structural abnormalities of the second X). The mean final height of the cohort was 1.50 m (range 1.38–1.64), i.e. −2.00 S.D. (population reference) or 0.61 S.D. (Turner reference). 32 received GH treatment. There was no significant difference in height between 45XO patients and others. Patients with Y chromosome material were taller, 1.54 m (6 patients). 18 (49%) entered puberty spontaneously (SP) and 8 (22%) achieved spontaneous menarche (SM); none of these were 45XO. Of the eight with an XX cell line, six had SP and five had SM. The average age of spontaneous or induced puberty was 13.0 years, and the average age of menarche was 15.8 years. 25 had pelvic ultrasound (US); 12 had normal ovarian appearance, of whom 8 had SP and 6 reached SM. 26 had FSH measured; mean FSH (IU/l) in those with SM was 4.1, compared to 38.3 in those who only had SP and 86.3 in those with no SP (P<0.05 vs those with SP).
Conclusion: This audit illustrates the karyotype-phenotype correlations in the height and pubertal outcomes of TS patients. If patients have at least one XX cell line, the chances of SP and SM are significantly higher. Prepubertal US and FSH were good predictors of pubertal outcomes.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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