Association study of gender identity disorder and sex hormone-related genes

Ujike, Hiroshi; Otani, Kyohei; Nakatsuka, Mikiya; Ishii, Kunihiko; Sasaki, Akira; Oishi, Tomoko; Sato, Toshiki; Okahisa, Yuko; Matsumoto, Yosuke; Namba, Yuzaburo; Kimata, Yoshihiro; Kuroda, Shigetoshi

doi:10.1016/j.pnpbp.2009.07.008

Cited by 67 publications

(57 citation statements)

References 30 publications

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“…This is implied by genetic abnormalities (albeit with very modest effect sizes) in terms of increased trinucleotide (CAG) repeats found in the androgen-receptor (AR) gene of male-to-female transsexuals, which are generally associated with impairment of androgen utilization (Hare et al, 2009); of an increased prevalence of CYP17 gene polymorphisms in female-to-male transsexuals associated with higher serum and tissue concentrations of both testosterone and estradiol (Bentz et al, 2008), which may explain some hormonal findings reported earlier (Bosinski et al, 1997); and of significant combined partial effects of three polymorphisms in male-to-female transsexualism (CAG repeats in the AR gene, tetra nucleotide repeats in the aromatase gene, and CA repeats in the estrogen receptor β gene; Henningsson et al, 2005; for new negative findings, see Ujike et al, 2009). Such genetic mechanisms may underlie the demonstration of substantial heritability of gender-related behavior in general and GID in particular in child and adolescent twin samples (Coolidge, Thede, & Young, 2002; Iervolino, Hines, Golombok, Rust, & Plomin, 2005; Knafo, Iervolino, & Plomin, 2005; van Beijsterveldt, Hudziak, & Boomsma, 2006).…”

Section: Arguments For and Against The Mental Disorder Classificationmentioning

confidence: 99%

From Mental Disorder to Iatrogenic Hypogonadism: Dilemmas in Conceptualizing Gender Identity Variants as Psychiatric Conditions

Meyer‐Bahlburg

2009

Arch Sex Behav

144

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The categorization of gender identity variants (GIVs) as “mental disorders” in the Diagnostic and Statistical Manual (DSM) of the American Psychiatric Association (APA) is highly controversial among professionals as well as among persons with GIV. After providing a brief history of GIV categorizations in the DSM, this paper presents some of the major issues of the ongoing debate: GIV as psychopathology versus natural variation; definition of “impairment” and “distress” for GID; associated psychopathology and its relation to stigma; the stigma impact of the mental-disorder label itself; the unusual character of “sex reassignment surgery” as a psychiatric treatment; and the consequences for health and mental-health services if the disorder label is removed. Finally, several categorization options are examined: Retaining the GID category, but possibly modifying its grouping with other syndromes; narrowing the definition to dysphoria and taking “disorder” out of the label; categorizing GID as a neurological or medical rather than a psychiatric disorder; removing GID from both the DSM and the International Classification of Diseases (ICD); and creating a special category for GIV in the DSM. I conclude that--as also evident in other DSM categories--the decision on the categorization of GIVs cannot be achieved on a purely scientific basis, and that a consensus for a pragmatic compromise needs to be arrived at that accommodates both scientific considerations and the service needs of persons with GIVs.

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Section: Arguments For and Against The Mental Disorder Classificationmentioning

confidence: 99%

From Mental Disorder to Iatrogenic Hypogonadism: Dilemmas in Conceptualizing Gender Identity Variants as Psychiatric Conditions

Meyer‐Bahlburg

2009

Arch Sex Behav

144

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“…No detectable influences of hormonal status [16] on gender dysphoria have been found so far. Concerning genetic factors the evidence is inconsistent: Some studies lacked to find genetic influences [17], [18], [19], whereas Hare and colleagues [20] identified an association between gender dysphoria and the androgen receptor allele. This is consistent with studies suggesting a much higher prevalence of gender dysphoria in monozygotic than in dizygotic twins [21] as well as in non-twin siblings than in the general population [22].…”

Section: Introductionmentioning

confidence: 99%

More than Just Two Sexes: The Neural Correlates of Voice Gender Perception in Gender Dysphoria

et al. 2014

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Gender dysphoria (also known as “transsexualism”) is characterized as a discrepancy between anatomical sex and gender identity. Research points towards neurobiological influences. Due to the sexually dimorphic characteristics of the human voice, voice gender perception provides a biologically relevant function, e.g. in the context of mating selection. There is evidence for a better recognition of voices of the opposite sex and a differentiation of the sexes in its underlying functional cerebral correlates, namely the prefrontal and middle temporal areas. This fMRI study investigated the neural correlates of voice gender perception in 32 male-to-female gender dysphoric individuals (MtFs) compared to 20 non-gender dysphoric men and 19 non-gender dysphoric women. Participants indicated the sex of 240 voice stimuli modified in semitone steps in the direction to the other gender. Compared to men and women, MtFs showed differences in a neural network including the medial prefrontal gyrus, the insula, and the precuneus when responding to male vs. female voices. With increased voice morphing men recruited more prefrontal areas compared to women and MtFs, while MtFs revealed a pattern more similar to women. On a behavioral and neuronal level, our results support the feeling of MtFs reporting they cannot identify with their assigned sex.

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“…The etiology and biological underpinnings of GID are still largely unknown and may be different for males and females (Cohen-Kettenis, Van Goozen, Doorn, & Gooren, 1998;Schagen,Delemarre-van de Waal, Blanchard,&Cohen-Kettenis, 2012). Female-to-male transsexualism has been linked to the CYP17 gene (Bentz et al, 2008) whereas male-to-female transsexualism to a polymorphism of the CAG repeat length in the androgen receptor (Hare et al, 2009).Although these associations between certain genes and transsexualism have not yet been replicated (Ujike et al, 2009) and may not be applicable to all subtypes of transsexualism (Lawrence, 2010), there is some suggestion that genes regulating sex steroid signaling and steroid receptor functioning are implicated in the development of GID. Based on case reports of twins with GID (for a recent review, see Heylens et al, 2012), it is argued that GID may indeed have a genetic component.…”

Section: Introductionmentioning

confidence: 99%

Click-Evoked Otoacoustic Emissions in Children and Adolescents with Gender Identity Disorder

et al. 2014

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Click-evoked otoacoustic emissions (CEOAEs) are echo-like sounds that are produced by the inner ear in response to click-stimuli. CEOAEs generally have a higher amplitude in women compared to men and neonates already show a similar sex difference in CEOAEs. Weaker responses in males are proposed to originate from elevated levels of testosterone during perinatal sexual differentiation. Therefore, CEOAEs may be usedas a retrospective indicator of someone's perinatal androgen environment. Individuals diagnosed with Gender Identity Disorder (GID), according to DSM-IV-TR, are characterized by a strong identification with the other gender and discomfort about their natal sex. Although the etiology of GID is far from established, itishypothesizedthat atypicallevels of sexsteroids during a critical period of sexual differentiation of the brain might play a role. In the present study, we compared CEOAEs in treatmentnaïve children and adolescents with early-onset GID (24 natal boys, 23 natal girls) and control subjects (65 boys, 62 girls). We replicated the sex difference in CEOAE response amplitude in the control group. This sex difference, however, was not present in the GID groups. Boys with GID showed stronger, more female-typical CEOAEs whereas girls with GID did not differ in emissionstrengthcomparedtocontrolgirls.Basedontheassumption that CEOAE amplitude can be seen as an index of relative androgen exposure,our results provide some evidence for the idea that boys with GID may have been exposed to lower amounts of androgen during early development in comparison to control boys.

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Association study of gender identity disorder and sex hormone-related genes

Cited by 67 publications

References 30 publications

From Mental Disorder to Iatrogenic Hypogonadism: Dilemmas in Conceptualizing Gender Identity Variants as Psychiatric Conditions

From Mental Disorder to Iatrogenic Hypogonadism: Dilemmas in Conceptualizing Gender Identity Variants as Psychiatric Conditions

More than Just Two Sexes: The Neural Correlates of Voice Gender Perception in Gender Dysphoria

Click-Evoked Otoacoustic Emissions in Children and Adolescents with Gender Identity Disorder

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