ICEECE2012 Poster Presentations Paediatric endocrinology (47 abstracts)
A particular phenotype in a case of Down-Turner syndrome
S. Bergamaschi 1, , C. Giavoli 1, , E. Profka 1, , E. Ferrante 1, , R. Fortuna 2 , S. Guerneri 2 , D. Milani 3 , F. Menni 4 , M. Cerutti 4, , G. Manzoni 5 , A. Berrettini 5 , S. Vallasciani 5 , A. Spada 1, & P. Beck-Peccoz 1,
1Endocrinology and Diabetology Unit, Milan, Italy; 2Medical Genetics Laboratory, Milan, Italy; 3Medical Genetics Unit, Milan, Italy; 4Pediatric Unit, Milan, Italy; 5Pediatric Urology Unit, Milan, Italy; 6University of Milan, Milan, Italy.
Introduction: Double aneuploidy involving both sex and autosomal chromosomes (chr) is very rare, Down–Turner syndrome being the most frequent. Fourty-seven cases of Down–Turner mosaicism have been reported, only nine with a karyotype containing Y chr (phenotype: seven male, two ambiguous genitals).
Case report: We describe a girl affected with Down-Turner syndrome. The cytogenetic analysis on peripheral lymphocytes, performed 2 months after birth because of mild facial dysmorphisms, showed a karyotype 45,X/47,XY,+21 (84/16%). Analysis of cultured skin fibroblasts confirmed the karyotype, with similar proportion of mosaicism (79/21%). The girl came to our attention at the age of 15.4 years. She presented few, if any characteristics of Down syndrome apart from primary autoimmune hypothyroidism. The phenotype of Turner syndrome was mild too: wide thorax with a large internipple distance, short neck, no signs of puberty with female external genitals, no mental retardation. Hormonal assessment showed hypergonadotropic hypogonadism (FSH 93.2 U/l, LH 37.7 U/l, estradiol 5 pg/ml, AMH<0.1 ng/ml, testosterone 0.24 ng/mL). MRI abdominal imaging showed streak dysgenetic gonads with an infantile uterus. Because of the presence of Y chr, along with streak non-functioning gonads, a prophylactic gonadectomy was performed and estrogenic replacement was started. Histological examination revealed a mixed gonadal dysgenesis, with the presence of both ovarian and testis tissue. Cytogenetic analysis performed with conventional techniques confirmed the karyotype 45,X/47,XY,+21 (77/23%) in gonadal fibroblasts. FISH analysis with SRY probe showed the presence of a hybridization signal on the Y chr.
Conclusions: We report the first case of Down–Turner syndrome presenting a Y chr with a female phenotype. To confirm the mosaicism as causative event, ongoing genetic studies will be carried out to exclude the presence of chimerism.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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