Klinefelter Syndrome in Twins: It Is All in the Family

Muhammad Imran Butt¹, Hiang Leng Tan^2, , Jonathan Mamo¹ and Najeeb Waheed³

¹Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

²Department of Diabetes and Endocrinology, Weston General Hospital, Weston-super-Mare, UK

³Department of Diabetes and Endocrinology, Hereford County Hospital, Hereford, UK

Cite this paper:
Muhammad Imran Butt, Hiang Leng Tan, Jonathan Mamo and Najeeb Waheed. Klinefelter Syndrome in Twins: It Is All in the Family. American Journal of Medical Case Reports. 2015; 3(1):4-6. doi: 10.12691/ajmcr-3-1-2

Abstract

Klinefelter’s Syndrome is a form of male hypogonadism which may present with; either a congenital chromosome abnormality; or alternatively with a mixture of 47XXY/46XY mosaics or higher-grade sex chromosomal aneuploidy as well as structurally abnormal X chromosomes. Clinically, the syndrome is characterized by findings of small, firm testes and symptoms of androgen deficiency but they may also present with azoospermia, tall stature and bilateral painless gynecomastia. This article will describe the presentation, investigation and eventual diagnosis of identical twins with Klinefelter’s Syndrome. Both presented with varying levels of morphological features indicative of Klinefelter’s Syndrome and required further hormonal and genetic investigation. These two cases illustrate the difference in presentation of Klinefelter’s Syndrome and the challenges experienced regularly by clinicians when attempting to treat patients diagnosed with sensitive Syndromes. This is made especially difficult when there are background issues of language barriers and compliance issues.

Keywords:
Klinefelter’s Syndrome hypogonadism twin compliance

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