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[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].
Ann Biol Clin (Paris). 2014 May-Jun; 72(3):371-7.AB

Abstract

49, XXXXY syndrome is a rare sex chromosome aneuploidy occurring in 1:80 000-1:100 000 male births. Data on this aneuploidy in adulthood are limited, with most of the literature data based on paediatric patients. We report a new male patient whose 49, XXXXY diagnosis was formally made at the age of 54 years. So far, no medical follow-up was performed specifically for his condition. This man presented with facial features (epicanthus, hypertelorism, up-slanting palpebral fissures), microorchidism and features of chronic hypoandrogenism with muscular weakness, sparse body hair, dry skin with abnormal healing of skin wounds. Endocrine evaluation confirmed a hypergonadotropic hypogonadism. He had moderate intellectual deficiency with more affected verbal skills. A recent deep vein thrombosis was diagnosed in his left leg. Unusually, in addition to moderate deafness, he developed progressively a severe vision impairment leading to blindness. There have been very few reports of adult individuals with 49, XXXXY syndrome and this kind of report may contribute to improved management of prospective medical healthcare associated with this condition in older individuals.

Authors+Show Affiliations

Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Service d'endocrinologie et gynécologie médicale, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Service d'endocrinologie et gynécologie médicale, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Service de neurologie, Université de Lorraine, Centre Hospitalier Universitaire de Nancy, Nancy, France.Service d'endocrinologie et gynécologie médicale, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

24876149

Citation

Collet, Agnès, et al. "[An Adult Patient With 49, XXXXY Syndrome: Further Clinical and Biological Delineation]." Annales De Biologie Clinique, vol. 72, no. 3, 2014, pp. 371-7.
Collet A, Chatelin J, Agopiantz M, et al. [An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. Ann Biol Clin (Paris). 2014;72(3):371-7.
Collet, A., Chatelin, J., Agopiantz, M., Valduga, M., Bonnet, C., Allou, L., Lambert, L., Gospodaru, R. N., Weryha, G., & Jonveaux, P. (2014). [An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. Annales De Biologie Clinique, 72(3), 371-7. https://doi.org/10.1684/abc.2014.0954
Collet A, et al. [An Adult Patient With 49, XXXXY Syndrome: Further Clinical and Biological Delineation]. Ann Biol Clin (Paris). 2014 May-Jun;72(3):371-7. PubMed PMID: 24876149.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. AU - Collet,Agnès, AU - Chatelin,Jérôme, AU - Agopiantz,Mikaël, AU - Valduga,Mylène, AU - Bonnet,Céline, AU - Allou,Lila, AU - Lambert,Laëtitia, AU - Gospodaru,Razvan Nicolaie, AU - Weryha,Georges, AU - Jonveaux,Philippe, PY - 2014/5/31/entrez PY - 2014/5/31/pubmed PY - 2016/5/18/medline KW - 49 KW - XXXY syndrome KW - aneuploidy SP - 371 EP - 7 JF - Annales de biologie clinique JO - Ann Biol Clin (Paris) VL - 72 IS - 3 N2 - 49, XXXXY syndrome is a rare sex chromosome aneuploidy occurring in 1:80 000-1:100 000 male births. Data on this aneuploidy in adulthood are limited, with most of the literature data based on paediatric patients. We report a new male patient whose 49, XXXXY diagnosis was formally made at the age of 54 years. So far, no medical follow-up was performed specifically for his condition. This man presented with facial features (epicanthus, hypertelorism, up-slanting palpebral fissures), microorchidism and features of chronic hypoandrogenism with muscular weakness, sparse body hair, dry skin with abnormal healing of skin wounds. Endocrine evaluation confirmed a hypergonadotropic hypogonadism. He had moderate intellectual deficiency with more affected verbal skills. A recent deep vein thrombosis was diagnosed in his left leg. Unusually, in addition to moderate deafness, he developed progressively a severe vision impairment leading to blindness. There have been very few reports of adult individuals with 49, XXXXY syndrome and this kind of report may contribute to improved management of prospective medical healthcare associated with this condition in older individuals. SN - 1950-6112 UR - https://www.unboundmedicine.com/medline/citation/24876149/[An_adult_patient_with_49_XXXXY_syndrome:_further_clinical_and_biological_delineation]_ L2 - http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/abc.2014.0954 DB - PRIME DP - Unbound Medicine ER -