Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2007) 14 P495

ECE2007 Poster Presentations (1) (659 abstracts)

Neonatal ventricular septal defect and late diagnosis of Turner syndrome

Serafino Lio & Marino Cibin


Dpt Internal Medicine 3, Oderzo-TV, Italy.


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.

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