A multicenter study on long-term outcomes in 56 males with 45,X/46,XY mosaicism

JULIANA ANDRADE; FEYZA DARENDELILER; CARLO ACERINI; ANDREA MACIEL GUERRA ; RIEKO TADOKORO CUCCARO ; ANGELA K. LUCAS-HERALD ; ROMINA GRINSPON; RITA ORTOLANO ; MARIE LINDHARDT JOHANSEN; SABINE HANNEMA; ANDERS JUUL; ANTONIO BALSAMO; CORINA LICHIARDOPOL; CHRISTA E. FLÜCK; FAISAL AHMED; TULAY GURAN; OLAF HIORT; STEFAN RIEDL

Paris

Congreso; Congreso Europeo de Endocrinología Pediátrica (ESPE); 2016

ESPE

Background: 45,X/46,XYmosaicism is a rare karyotype with a broad phenotypic variation. In patientswith a male or predominantly male phenotype, impaired genital development andstatural growth have been observed, but little is known about long-termoutcomes. Larger multicenter studies are needed.Objective and hypotheses:The aim ofthis study is to investigate long-term outcomes, namely gonadal function,growth and co-morbidities, in a larger group of males with 45,X/46,XYmosaicism.Method:Using the I-DSDRegistry, all centers with males with 45,X/46,XY mosaicism were invited toparticipate in this multicenter study. Only post-pubertal patients that hadreached adult height were included. At the time of writing, inclusion is stillongoing.Results:In total,22 centers were invited. Thus far 18 centers have responded positively and 16centers have supplied data on a total of 56 males. Age at the last evaluationwas 26.6 years (13.4-70.2 years). External masculinization score (EMS) at timeof diagnosis was 8.5/12 (2 - 12). Nine (23.7%) patients had a score of 12(complete external virilization). 38 patients (77,6%) entered pubertyspontaneously. 15 (34.1%) had received testosterone treatment. Final height was157.0 cm (141.1-184.0 cm). 17 patients (38.6%) had received growth hormone. Sixpatients (11,8%) had renal disease/abnormalities and 10 (19,2%) had congenitalcardiac malformations. One patient (2,3%) had a gonadal tumor and 6 (18,2%) hadprecursor lesions.Conclusion:Thesepreliminary data show that patients with 45,X/46,XY have varying phenotypesreflected by the EMS. Most of the patients spontaneously entered pubertyindicating good Leydig cell function, although 15 did receive testosterone.Patients have short adult stature. The prevalence of gonadal neoplasia in situand renal and cardiac co-morbidities appears to be high. The study is ongoing,but final data analyses will be presented. It can, however, be concluded thatrecruiting centers through the iDSD Registry was successful.