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. 2015:2015:802162.
doi: 10.1155/2015/802162. Epub 2015 Jun 15.

Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

Hanane Latrech  1 , Imane Skikar  2 , Mohammed El Hassan Gharbi  3 , Abdelmjid Chraïbi  3 , Ahmed Gaouzi  4
Affiliations

Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

Hanane Latrech et al. Case Rep Endocrinol. 2015.

Abstract

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.

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Figures

Figure 1
Figure 1
Case 1: testis ectopia, micropenis.
Figure 2
Figure 2
Case 1: curvature of the penis.
Figure 3
Figure 3
Case 2: hypertelorism.
Figure 4
Figure 4
Case 2: nonpalpable left testicle and prepubertal right testicle in scrotal position.
Figure 5
Figure 5
Case 2: hypospadias.
Figure 6
Figure 6
Case 2: male urethra.
See this image and copyright information in PMC

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