AN SRY-POSITIVE 46,XX MALE
Kaur A1,*, Sachdeva K1, Mahajan S1, Virk SPS2, Singh JR1
*Corresponding Author: Dr. Anupam Kaur, Centre for Genetic Disorders, Guru Nanak Dev University, G.T. Road, Amritsar, 143005, India; Tel.: +91-183-2258802 to 2258809, Ext 3446; Fax: +91-183-2258863; E-mail: anupamkaur@yahoo.com
page: 51

INTRODUCTION

In the XX male syndrome, an affected individual may show normal male physical features but have a female chromosomal constitution. The syndrome occurs in approximately 1/20,000 to 1/25,000 individuals. Two types of XX male syndrome can occur, with or without a detectable SRY gene (region for testes determination on the Y chromosome), respectively. The XX males carry 35 kb of the Y-specific DNA on the short arm of their X chromosome [1]. Testes determination would be initiated in those individuals who inherit the paternal X chromosome with an SRY gene translocated from the Y chromosome [2]. The 46,XX males have testes, male habitus, azoospermia and absence of a uterus or ovaries, thus are distinct from 46,XX true hermaphrodites who have both testicular and ovarian development [3,4]. We here describe a male with a 46,XX chromosomal constitution, normal male phenotype, infertility and azoospermia. The presence of the SRY gene was confirmed with fluorescent in situ hybridization (FISH).

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1 Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India

2 SPS Virk, Centre for Human Reproduction, Jalandhar, Punjab, India




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