Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient. Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH) levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula. Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder.
Le syndrome de régression embryonnaire des testicules ou anorchidie bilatérale congénitale (ABC) est un syndrome très rare défini par l'absence complète de tissu testiculaire chez un patient présentant un caryotype masculin normal. Le phénotype est variable en fonction du moment où la régression gonadique survient in utero. Actuellement, son déterminisme reste encore mystérieux mais sa survenue familiale est un argument pour suggérer une étiologie génétique. Nous en rapportons six cas, illustrant la variabilité phénotypique et décrivant la démarche et les nouveaux marqueurs diagnostiques ainsi que la conduite à tenir thérapeutique.
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