Phenotypic and cytogenetic findings in girls with "Y" sequences in their karyotypes

KESELMAN, ANA; ACOSTA, JOHANNA; ESCOBAR, MARÍA EUGENIA; DEL REY, GRACIELA; ZUCCARDI, L; VENARA, MARCELA; ARCARI, ANDREA; BOUKHAIR; M; BERGADÁ, IGNACIO; MARTINEZ, ALICIA; GRYNGARTEN, MIRTA

Milán

Congreso; 9th Joint Meeting of Paediatric Endocrinology ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP.; 2013

ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP.

Page 326 Abstr P2 d1 1051 Introduction: The presence of Y chromosome material in females is associated with the risk of development of gonadal tumors having an increased age related risk. Aim: To evaluate retrospectively the clinical, phenotype and cytogenetic characterization of patients presenting "Y material in their karyotypes who were subsequently gonadectomized.Patients and metbods: Twenty six patients treated at the Division of Endocrinology and Surgery were admitted al 0.5 throughl8 years of age. Cytogenetic studies were performed in peripheral blood cultures with conventional banding G and high resolution techniques. Current cytogenetic analyzes were performed with FISH lo asses molecular sequences of "Y" chromosomes. Gonadectomy was performed through laparoscopy. Results: Patients were evaluated at a mean age of 9.8 ± 5.5 years of age. Sixteen girls were first evaluated because short stature, one because a palpable tumor, 5 for arrested puberty and/or amenorrhea and 2 edemas of hands and feet. 21/26 had typical Turner Syndrome stigmata. Only 3 patients had very few signs of virilization: 2 mild clitoris hypertrophy and one lower posterior fusion labia. Mean height at diagnosis was -2.4 ± 1.6 SDS. Karyotypes were: 46, XY (n = 4), 45, X/46, XY (n = 11), 45, X/46, X + mar (n= 2), 45, X but with SRY gene sequences, DYZ3 (Y centromere) and DYZl (Y heterochromatin) positive (n =2), in the remaining patients, karyotypes showed different complex mosaics. All patients were gonadectomized without complications. In 8 ofthem gonadal tumors were found (30.6%): 4 gonadoblastomas, 3 had gonadoblastoma and dysgermínoma, and 1 had an undifferentiated gonadal tumor. Ages ofthese patients ranged from 4.4 to 18. Conclusions: The presence of gonada! tumors in children with "Y´ chromosome and / or "Y" hidden sequences highlights the importance ofperforming early gonadectomies and genetic diagnoses in girls with short stature.