ECE2015 Eposter Presentations Steroids, development and paediatric endocrinology (36 abstracts)
Haploinsufficiency of the SHOX gene associated with mosaicism 45,X/46,XY with chromosome Y ring as causes of delayed growth and puberty
Diana Martins 1 , Carla Baptista 1 , Margarida Bastos 1 , Ana Garabal 2 , Joaquim Sá 1 , Carolina Moreno 1 , Daniela Guelho 1 , Nuno Vicente 1 , Luís Cardoso 1 , Margarida Balsa 3 , Diana Oliveira 1 & Francisco Carrilho 1
1Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Centre, Coimbra, Portugal; 2Genetics Department, Pediatric Hospital Carmona da Mota of Coimbra Hospital and University Centre, Coimbra, Portugal; 3Endocrinology, Diabetes and Nutrition Department, Baixo Vouga Hospital Centre, Aveiro, Puerto Rico, Portugal.
Introduction: The height growth is regulated by multiple factors, including specific genetic mutations that ensure correct differentiation and proliferation of chondrocytes. We present a case of double association of haploinsufficiency of the SHOX gene with a mosaic 45,X/46,X,r(Y) karyotype responsible for growth and pubertal delay.
Case: Male patient, observed in endocrinology consultation at age of 12, with constitutional delay of growth (below the 5th percentile) and pubertal delay. Hormonal analytical study excluded GH deficit and showed reduction of total testosterone (0.2 ng/ml) and free testosterone (0.2 pg/ml) and proof of GnRH with abnormal response. Coeliac disease was excluded. Radiographic study presented delay of skeletal maturation and echographic study established the presence of well positioned testes with normal morphology. Magnetic resonance of the pituitary was also normal. Karyotype’s study was performed and revealed the presence of a mosaic 45,X/46,XY. About 63% of the cells didn’t had the SRY gene.
He made two cycles of 4 months with testosterone enanthate (dose of 62.5 mg/month) with regular progression of pubertal development, however the patient kept growth delay in the follow up. Now, at the age of 18, it was performed karyotype study with extended banding that confirmed an aneuploid line for the Y chromosome (45,X) without SRY gene, and a line with a ring Y chromosome (46,X,r (Y)) without the SHOX gene and the presence of SRY.
Conclusions: The case described highlights the importance of accurate diagnosis of sex chromosome abnormalities and mutations of the SHOX gene to establish a diagnostic strategy and appropriate therapy in patients with constitutional delay of growth and puberty. We also recommend for the need of regular monitoring, because the potentially associated complications.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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