Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?
Joint Authors
Latrech, Hanane
Skikar, Imane
Gharbi, Mohammed El Hassan
Chraïbi, Abdelmjid
Gaouzi, Ahmed
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-15
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Latrech, Hanane& Skikar, Imane& Gharbi, Mohammed El Hassan& Chraïbi, Abdelmjid& Gaouzi, Ahmed. 2015. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?. Case Reports in Endocrinology،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058423
Modern Language Association (MLA)
Latrech, Hanane…[et al.]. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?. Case Reports in Endocrinology No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1058423
American Medical Association (AMA)
Latrech, Hanane& Skikar, Imane& Gharbi, Mohammed El Hassan& Chraïbi, Abdelmjid& Gaouzi, Ahmed. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?. Case Reports in Endocrinology. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058423
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058423