49, XXXXY Syndrome with Unilateral Renal Aplasia, Proteinuria, and Venous Thromboembolism

Abstract

A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. The activated partial thromboplastin time was shortened, and the level of plasma factor VIII was high. A chromosomal analysis revealed a 49, XXXXY karyotype. From the 10th hospital day, he suffered from sudden dyspnea following swelling of the left leg. He was diagnosed as having deep vein thrombosis and pulmonary embolism, and was successfully treated with anticoagulant therapy. This is the first case of the 49, XXXXY syndrome complicated with unilateral renal aplasia, proteinuria, and venous thromboembolism.

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

“…Some physical features, such as pugilistic facial appearance, dental defects, and radioulnar synostosis were described in 48XXYY and other rare sex chromosome aneuploidies [10, 18]. Congenital heart defects are frequent in Klinefelter syndrome [19], and occur in 19.4% of 48XXYY patients [4].…”

“…Congenital heart defects are frequent in Klinefelter syndrome [19], and occur in 19.4% of 48XXYY patients [4]. Congenital renal aplasia was not described in 48XXYY patients although it was reported in Klinefelter syndrome or in other sex chromosomal polysomies [18]. The gene dose effects of noninactivated genes on the extra chromosomes may be a plausible cause of the congenital malformations and may also account for the increased risk of delayed speech, learning difficulties, and psychiatric diseases [19].…”

Perspectives in Pediatric Pathology, Chapter 16. Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. Clinical and Pathological Entities

“…They tend to be shy and friendly [86]. They also have hypoplasia of external genitalia, cardiac malformations, radioulnar synostosis, proximal tibiofibular synostosis, and high arched palate [47,83,[87][88][89][90][91]. The incidence is estimated at 1:85,000 male births [92].…”