Search our Database of Scientific Publications and Authors

I’m looking for a
    Hormone and genetic study in male to female transsexual patients.
    J Endocrinol Invest 2013 Sep 14;36(8):550-7. Epub 2013 Jan 14.
    Department of Experimental Medicine, Policlinico "Umberto I", University of Rome "La Sapienza, Viale del Policlinico 155, 00161, Rome, Italy.
    Background: Data of the literature demonstrated controversial results of a correlation between transsexualism and genetic mutations.

    Aim: To evaluate the hormone and gene profile of male-female (M-F) transsexual.

    Subjects And Methods: Thirty M-F transsexuals aged 24-39. Seventeen had already undergone sex reassignment surgery, 13 were awaiting. All subjects had been undergoing estrogen and antiandrogen therapy. We studied hormones of the hypothalamus- pituitary-testicular axis, thyroid and adrenal profile, GH basal and after GHRH stimulation, IGF-I. The gene study analyzed SRY, AR, DAX1, SOX9, AZF region of the Y chromosome.

    Results: Pre-surgery subjects had elevated PRL, reduced testosterone and gonadotropins. Post-surgery subjects showed reduced androgens, a marked increase in LH and FSH and normal PRL. Cortisol and ACTH were similar to reference values in pre- and post-surgery patients. There was a marked increase in the baseline and post-stimulation GH values in 6 of the 13 pre-surgery patients, peaking at T15. IGF-I was similar to reference values in both groups except for one post-surgery patient, whose level was below the normal range. There were no polymorphisms in the amplified gene region for SOX9, and a single nucleotide synonimous polymorphism for DAX1. No statistically significant differences were seen in the mean of CAG repeats between controls and transsexual subjects. SRY gene was present in all subjects. Qualitative analysis of the AZFa, AZFb, and AZFc regions did not reveal any microdeletions in any subject.

    Conclusions: This gender disorder does not seem to be associated with any molecular mutations of some of the main genes involved in sexual differentiation.

    Similar Publications

    The effect of non-steroidal antiandrogen flutamide on luteinizing hormone pulsatile secretion in male-to-female transsexual subjects.
    J Endocrinol Invest 1995 Jun;18(6):420-6
    Cattedra di Endocrinologia, University of Genova, Italy.
    We evaluated LH pulsatile patterns before and 4 weeks after the oral administration of flutamide (750 mg/day) in 9 male-to-female transsexuals (age range 17-28 yr) requesting gender reassignment. Flutamide was given to explore the feedback role of androgens on the LHRH-LH unit in LH pulsatility in transsexuals. Seven normal age-matched men served as a control group, without receiving flutamide, due to ethical considerations. Read More
    Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.
    BMC Urol 2014 Aug 28;14:70. Epub 2014 Aug 28.
    Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, PR China.
    Background: To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene.

    Methods: Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Read More
    Cytogenetic and molecular analysis of the Y chromosome: absence of a significant relationship between CAG repeat length in exon 1 of the androgen receptor gene and infertility in Indian men.
    Int J Androl 2003 Oct;26(5):286-95
    Cytogenetics Laboratory, Department of Biosciences, Faculty of Natural Sciences, Jamia Millia Islamia, New Delhi, India.
    The genetic basis of male infertility remains unclear in the majority of cases. Recent studies have indicated an association between microdeletions of the azoospermia factor a (AZFa)-AZFc regions of Yq and severe oligospermia or azoospermia. Increased (CAG)n repeat lengths in the androgen receptor (AR) gene have also been reported in infertile men. Read More
    46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.
    BMC Urol 2014 Dec 22;14:104. Epub 2014 Dec 22.
    Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, PR China.
    Background: 46,XX testicular disorder of sex development is a rare genetic syndrome, characterized by a complete or partial mismatch between genetic sex and phenotypic sex, which results in infertility because of the absence of the azoospermia factor region in the long arm of Y chromosome.

    Case Presentation: We report a case of a 14-year-old male with microorchidism and mild bilateral gynecomastia who referred to our hospital because of abnormal gender characteristics. The patient was treated for congenital scrotal type hypospadias at the age of 4 years. Read More