46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation

46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation Publisher Pubmed

Mohammadpour Lashkari F¹ ; Totonchi M² ; Zamanian MR² ; Mansouri Z² ; Sadighi Gilani MA^{1, 3} ; Sabbaghian M¹ ; Mohseni Meybodi A²

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1. Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
2. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
3. Department of Urology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Andrologia Published:2017

Abstract

46,XX male sex reversal syndrome is one of the rarest sex chromosomal aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent cause of this syndrome. Based on Y chromosome profile, there are SRY-positive and SRY-negative forms. The purpose of our study was to report first case series of Iranian patients and describe the different clinical appearances based on their genetic component. From the 8,114 azoospermic and severe oligozoospermic patients referred to Royan institute, we diagnosed 57 cases as sex reversal patients. Based on the endocrinological history, we performed karyotyping, SRY and AZF microdeletion screening. Patients had a female karyotype. According to available hormonal reports of 37 patients, 16 cases had low levels of testosterone (43.2%). On the other hand, 15 males were SRY positive (90.2%), while they lacked the spermatogenic factors encoding genes on Yq. Commencing the testicular differentiation in males, the SRY gene is considered to be very important in this process. Due to homogeneous results of karyotyping and AZF deletion, there are both positive and negative SRY cases that show similar sex reversal phenotypes. Evidences show that there could be diverse phenotypic differences that could be raised from various reasons. © 2016 Blackwell Verlag GmbH

Style	Citing Format
MLA	Mohammadpour Lashkari F, et al.. "46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation." Andrologia, vol. 49, no. 7, 2017, pp. -.
APA	Mohammadpour Lashkari F, Totonchi M, Zamanian MR, Mansouri Z, Sadighi Gilani MA, Sabbaghian M, Mohseni Meybodi A (2017). 46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation. Andrologia, 49(7), -.
Chicago	Mohammadpour Lashkari F, Totonchi M, Zamanian MR, Mansouri Z, Sadighi Gilani MA, Sabbaghian M, Mohseni Meybodi A. "46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation." Andrologia 49, no. 7 (2017): -.
Harvard	Mohammadpour Lashkari F et al. (2017) '46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation', Andrologia, 49(7), pp. -.
Vancouver	Mohammadpour Lashkari F, Totonchi M, Zamanian MR, Mansouri Z, Sadighi Gilani MA, Sabbaghian M, et al.. 46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation. Andrologia. 2017;49(7):-.
BibTex	@article{ author = {Mohammadpour Lashkari F and Totonchi M and Zamanian MR and Mansouri Z and Sadighi Gilani MA and Sabbaghian M and Mohseni Meybodi A}, title = {46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation}, journal = {Andrologia}, volume = {49}, number = {7}, pages = {-}, year = {2017} }
RIS	TY - JOUR AU - Mohammadpour Lashkari F AU - Totonchi M AU - Zamanian MR AU - Mansouri Z AU - Sadighi Gilani MA AU - Sabbaghian M AU - Mohseni Meybodi A TI - 46,Xx Males: A Case Series Based on Clinical and Genetics Evaluation JO - Andrologia VL - 49 IS - 7 SP - EP - PY - 2017 ER -

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