title: 46,XX males: a case series based on clinical and genetics evaluation.
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.
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Mohammadpour Lashkari
authors.affiliation: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Totonchi
authors.affiliation: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: M R
authors.initials: MR
authors.lastname: Zamanian
authors.affiliation: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Z
authors.initials: Z
authors.lastname: Mansouri
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.|Department of Urology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M A
authors.initials: MA
authors.lastname: Sadighi Gilani
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Sabbaghian
authors.affiliation: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Mohseni Meybodi
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D000328:Adult; D053713:Azoospermia / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007492:Iran; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D013739:Testosterone / Q000097:blood
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
keywords: azoospermia; male infertility; sex determining region Y; sex reversal syndrome