Andrologia 2016; 1–7 wileyonlinelibrary.com/journal/and | 1 © 2016 Blackwell Verlag GmbH Accepted: 1 August 2016 DOI: 10.1111/and.12710 Summary 46,XX male sex reversal syndrome is one of the rarest sex chromosomal aberratons. The presence of SRY gene on one of the X chromosomes is the most frequent cause of this syndrome. Based on Y chromosome profle, there are SRY-positve and SRY- negatve forms. The purpose of our study was to report frst case series of Iranian pa- tents and describe the diferent clinical appearances based on their genetc component. From the 8,114 azoospermic and severe oligozoospermic patents referred to Royan insttute, we diagnosed 57 cases as sex reversal patents. Based on the endocrinologi- cal history, we performed karyotyping, SRY and AZF microdeleton screening. Patents had a female karyotype. According to available hormonal reports of 37 patents, 16 cases had low levels of testosterone (43.2%). On the other hand, 15 males were SRY positve (90.2%), while they lacked the spermatogenic factors encoding genes on Yq. Commencing the testcular diferentaton in males, the SRY gene is considered to be very important in this process. Due to homogeneous results of karyotyping and AZF deleton, there are both positve and negatve SRY cases that show similar sex reversal phenotypes. Evidences show that there could be diverse phenotypic diferences that could be raised from various reasons. KEYWORDS azoospermia, male infertlity, sex determining region Y, sex reversal syndrome 1 Department of Andrology, Reproductve Biomedicine Research Center, Royan Insttute for Reproductve Biomedicine, ACECR, Tehran, Iran 2 Department of Genetcs, Reproductve Biomedicine Research Center, Royan Insttute for Reproductve Biomedicine, ACECR, Tehran, Iran 3 Department of Urology, Shariat Hospital, Tehran University of Medical Sciences, Tehran, Iran Correspondence Anahita Mohseni Meybodi, Department of Genetcs, Reproductve Biomedicine Research Center, Royan Insttute for Reproductve Biomedicine, ACECR, Tehran, Iran. Email: anahitamohseni@gmail.com and Marjan Sabbaghian, Department of Andrology, Reproductve Biomedicine Research Center, Royan Insttute for Reproductve Biomedicine, ACECR, Tehran, Iran. Email: Marjan.sabbaghian@gmail.com CASE REPORT 46,XX males: a case series based on clinical and genetcs evaluaton F. Mohammadpour Lashkari 1 | M. Totonchi 2 | M. R. Zamanian 2 | Z. Mansouri 2 | M. A. Sadighi Gilani 1,3 | M. Sabbaghian 1,a | A. Mohseni Meybodi 2,a 1 | INTRODUCTION 46,XX male sex reversal syndrome, characterised by discordant gonads and sex chromosomes, is a rare anomaly (Li, Huang, Jiang, & Xie, 2004). It is an unfrequent form of sex reverse in infertle men, which has been primarily defned by de la Chapelle, Hortling, Niemi, and Wennstroem (1964). It has been found to be the result of a complete or partal mismatch between genotype and phenotype. Clinical phenotypes of 46,XX DSD (disorder of sex development) fall into three groups: males with normal phenotype, males with genital ambiguites and males with true hermaphroditsm. Afer puberty, al- most 80% of individuals sufering from 46,XX testcular DSD show normal pubic hair and normal penile size, but small tests and sterility resultng from azoospermia (Wu et al., 2014). The SRY gene (sex de- termining region Y) playing a principle role in the male sexual difer- entaton pathway during foetal life commences a genetc cascade result of which will be testcular development (Berta et al., 1990). This key role in diferentaton of the bipotental gonad into tests has been proven (Anik, Catli, Abaci, & Bober, 2013). In most sex reversal cases, SRY is present (SRY positve), while 10% of them do not carry this region on their X chromosome (SRY negatve). They show hypo- spadias, undescended testes or various degrees of inadequate virili- saton in the external genitalia (Ergun-Longmire et al., 2005; Lee, Ko, Shin, & Yang, 2014). The transcripton of SOX9 (SRY-box 9 gene) is enhanced in the genital ridge by SRY. This is one of the most import- ant efects atributed to SRY (Sekido & Lovell-Badge, 2008). Both a These two authors are the Co-corresponding authors and contributed equally to this artcle.