Introduction: 49,XXXXY polysomy incidence is about 1 per 85000 to 100000 male births. As a rare condition with medical problems affecting different systems it should be evaluated under a multidisciplinary approach. We have reviewed the clinical characteristics of patients with this anomaly from all the country who contacted the program for evaluation.
Methods: In 2016 we started a multidisciplinary program for the care of patients with sex chromosomal aneuploidies. Patients contacted trough family organizations or social networks. All patients were evaluated by an endocrinologist, psychiatrist, neuropsychologist, neurologist and clinical geneticist.
Results: Seven patients were evaluated with 49, XXXXY aneuploidy, one of them had a mosaic with 3 cellular types (47,XXY, 48,XXXY and 49,XXXXY), aged 3 to 16 years old. All had a variable degree of facial dysmorphism, the most frequent were hypertelorism and epicanthal folds, along with radioulnar synostosis and elbow dislocation. The endocrinology evaluation showed testicular size below normal range even in prepubertal boys with decreased phallus length in 4/7. Cryptorchidism was present in 4/7. All but one were small for gestational age. Height in normal range (−2.15 to +0.7 S.D.) but below midparental height (−1.1 to +1.3 S.D.). Four patients were treated with prepubertal testosterone for micropenis and two of them are in puberty under testosterone replacement treatment. Motor delay and neonatal hypotonia were found in all patients, three of them with failure to thrive. Cognitive development was affected in some degree in all the patients, specially in language and verbal skills. We found attention deficit hyperactivity disorder in 5/7 patients and anxiety behaviors in 5 of the seven boys.
Comments: The clinical and developmental features found in these patients were similar to those previously reported, with the exception of intrauterine growth retardation. The diversity of clinical and developmental symptoms of this disorder make necessary a multidisciplinary approach to detect and treat early medical problems
27 - 29 Sep 2018
European Society for Paediatric Endocrinology