Literature DB >> 17850758

Endocrine function in a 48,XXYY adult with type 2 diabetes: case report with a review of the literature.

S Dubois1, F Illouz, L Pinson, D Bonneau, V Rohmer, A Guichet.   

Abstract

We present the clinical, biological, endocrinal and psychological characteristics of a 48,XXYY adult. The 43-year-old male examined is the first reported case of this XY polysomy concomitant with type 2 diabetes. Endocrine investigations suggested dysfunction of Leydig and Sertoli cells whereas the pituitary function appeared normal. We compare the phenotypic, behavioral and pathological features of the syndrome in our patient with other reports in the literature.

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Year:  2007        PMID: 17850758     DOI: 10.1016/j.ando.2007.07.002

Source DB:  PubMed          Journal:  Ann Endocrinol (Paris)        ISSN: 0003-4266            Impact factor:   2.478


  4 in total

Review 1.  48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.

Authors:  Nicole Tartaglia; Natalie Ayari; Susan Howell; Cheryl D'Epagnier; Philip Zeitler
Journal:  Acta Paediatr       Date:  2011-04-08       Impact factor: 2.299

2.  Distinct mechanism of formation of the 48, XXYY karyotype.

Authors:  Aránzazu Margallo Balsera; Manuela Núñez Estévez; Emilia Balboa Beltrán; Plácida Sánchez-Giralt; Luz González García; Trinidad Herrera Moreno; Mayte García de Cáceres; José M Carbonell Pérez; Enrique Galán Gómez; Raquel Rodríguez-López
Journal:  Mol Cytogenet       Date:  2013-07-03       Impact factor: 2.009

3.  48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.

Authors:  Baha Zantour; Mohamed Habib Sfar; Samia Younes; Wafa Alaya; Mahdi Kamoun; Emna Mkaouar; Saida Jerbi
Journal:  Case Rep Med       Date:  2010-08-17

4.  An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.

Authors:  Prasad Katulanda; J Rasika D K Rajapakse; Jayani Kariyawasam; Rohan Jayasekara; Vajira H W Dissanayake
Journal:  Indian J Endocrinol Metab       Date:  2012-09
  4 in total

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