Endocrine Abstracts

The high morbidity and mortality rate of women with Turner syndrome (TS) is primarily a results of the cardiovascular complications and so it is necessary an accurate and precocious diagnosis of this disease. Congenital cardiac anomalies, whose causes remains unknown, are common in TS (21–40%), in particular among patients with 45 X; between these the ventricular septal defect (VSD) is very rare (in a recent review, 3/1092 cases) (Gravholt 2004) and so in neonatal with VSD may not suppose the presence of TS.

We describe a female with TS (45 X, dic.(Y,15)(q12;p11.2) and VSD. Pt is a 17-year-old Caucasian female who first presented to endocrine evaluation for no pubertal development. The patient, born at term of normal pregnancy, at 7-months-old is operated of VSD. Clinically is present short stature (<third percentile) and cubitus valgus. Endocrine function show an hypergonadotropic hypogonadism. The chromosomal analysis showed 45 X and the presence of dicentric chromosome (Y,15)(q 12;p11.2) and so the patient it has been submitted to prophylactic laparoscopic excision of the gonads for risk of gonadoblastoma. Moreover, a hormone replacement therapy has been begun with induction of puberty.

In summary, this is a patient with mosaic TS with VSD; it is important remember that the VSD is rare but possible in TS and so suggested in these patients for precociously treated each problem of this syndrome.