Discordant Sexual Identity in Some Genetic Males with Cloacal Exstrophy Assigned to Female Sex at Birth

Reiner, William G.; Gearhart, John P.

doi:10.1056/nejmoa022236

Cited by 273 publications

(131 citation statements)

References 34 publications

(44 reference statements)

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“…attitudes. 12,13 It is likely that practice has also been influenced by those cases of XY DSD who were raised as girls and who developed gender dysphoria, although other similar cases in which gender dysphoria was not encountered have received less attention. 17 The etiology of 46,XY DSD is wide ranging 18 ; although at the moment, a confirmatory genetic diagnosis is rarely sought regularly for assisting with a decision for sex assignment, it is possible that in the future ongoing technological advances will lead to a turnaround time that is so short that the knowledge of the genetic mutation may play a larger part in the sex assignment process as well as in the development of a plan for long-term surveillance.…”

Section: Discussionmentioning

confidence: 99%

Changes Over Time in Sex Assignment for Disorders of Sex Development

et al. 2014

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WHAT'S KNOWN ON THIS SUBJECT: XY disorders of sex development have a diverse etiology and often present with atypical genitalia in the newborn period. Sex assignment in those cases in whom this is marked genital ambiguity is a rare, challenging situation that requires multidisciplinary input. WHAT THIS STUDY ADDS:An international registry has shown temporal changes over the last 3 decades in the practice of sex assignment with a greater proportion of severely affected infants being raised as boys, raising the need for long-term monitoring of these children. abstract BACKGROUND AND OBJECTIVE: It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied. METHODS:Cases of disorders of sex development reported as partial androgen insensitivity syndrome (PAIS; n = 118), disorder of gonadal development (DGD; n = 232), and disorder of androgen synthesis (DAS; n = 104) were divided into those who were born before 1990, 1990-1999, and after 1999. External appearance of the genitalia was described by the external masculinization score. RESULTS:The median (5th-95th percentile) external masculinization scores of those infants with PAIS, DGD, and DAS who were raised as boys were 6 (2-9), 6 (3-9), and 6 (1-12), respectively, and were significantly higher than in those raised as girls (2 [0-6], 2 [0-7], and 0 [0-5], respectively); this difference was maintained in the 3 temporal birth cohorts (P , .01). Of the 118 cases in the pre-1990 cohort, 41 (35%) were raised as boys; of the 148 cases in the 1990-1999 cohort, 60 (41%) were raised as boys; and of the 188 cases in the post-1999 cohort, 128 (68%) were raised as boys.

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Section: Discussionmentioning

confidence: 99%

Changes Over Time in Sex Assignment for Disorders of Sex Development

et al. 2014

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“…At puberty, these individuals experience a surge in T due to the nontesticular conversion of circulating androstenedione to T (via allozymes of 17␤-HSD-3) and about one-half of these individuals, reared as girls, change their sex to male (reviewed in Wisniewski et al 2008). This is the same rate of sex change as XY individuals with normal levels of T throughout life that were raised as girls because they were born without a penis due to cloacal exstrophy (Reiner and Gearhart 2004). Only a few reports on the sexual orientation of males with acute 17␤-HSD-3 deficiency are available, but they suggest a predominance of male heterosexual orientation (ImperatoMcGinley et al 1979;Meyer-Bahlburg 1993).…”

Section: Sex Hormone Differences Are Notmentioning

confidence: 99%

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Rice

Friberg²,

Gavrilets³

2012

The Quarterly Review of Biology

115

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“…with bladder exstrophy and a partly or wholly absent penis -are usually changed into girls immediately after birth. A survey showed that in adulthood only 65% of these children who were changed into girls continued to live as girls, and when individuals with gender dysphoria were excluded the figure dropped to 47% (44,45). From these examples it appears that the direct action of testosterone on the developing brain in boys and the lack of it in the developing brain in girls are crucial factors in the development of male and female gender identity and sexual orientation, although other sexually dimorphic functions still need to be investigated in these people.…”

Section: The Mechanism Of Sexual Differentiation Of the Brain: Neurobmentioning

confidence: 99%

Sexual differentiation of the human brain in relation to gender identity and sexual orientation

Savić

Garcı́a-Falgueras

Swaab

2010

Progress in Brain Research

123

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SummaryDuring the intrauterine period the fetal brain develops in the male direction through a direct action of testosterone on the developing nerve cells, or in the female direction through the absence of this hormone surge. In this way, our gender identity (the conviction of belonging to the male or female gender) and sexual orientation are programmed into our brain structures when we are still in the womb. However, since sexual differentiation of the genitals takes place in the first two months of pregnancy and sexual differentiation of the brain starts in the second half of pregnancy, these two processes can be influenced independently, which may result in transsexuality. This also means that in the event of ambiguous sex at birth, the degree of masculinization of the genitals may not reflect the degree of masculinization of the brain. There is no proof that social environment after birth has an effect on gender identity or sexual orientation.KEY WORDS: gender identity, homosexuality, human brain, sexual orientation, sexual differentiation, transsexuality. Sexual organization and activation of the human brainThe process of sexual differentiation of the brain brings about permanent changes in brain structures and functions via interactions of the developing neurons with the environment, understood in its widest sense. The environment of a developing neuron is formed by the surrounding nerve cells and the child's circulating hormones, as well as the hormones, nutrients, medication and other chemical substances from the mother and the environment that enter the fetal circulation via the placenta. All these factors may have a lasting effect on the sexual differentiation of the brain. The testicles and ovaries develop in the sixth week of pregnancy. This occurs under the influence of a cascade of genes, starting with the sex-determining gene on the Y chromosome (SRY). The production of testosterone by a boy's testes is necessary for sexual differentiation of the sexual organs between weeks 6 and 12 of pregnancy. The peripheral conversion of testosterone into dihydrotestosterone is essential for the formation of a boy's penis, prostate and scrotum. Instead, the development of the female sexual organs in the womb is based primarily on the absence of androgens (1). Once the differentiation of the sexual organs into male or female is settled, the next thing that is differentiated is the brain, under the influence, mainly, of sex hormones on the developing brain cells. The changes (permanent) brought about in this stage have organizing effects; later, during puberty, the brain circuits that developed in the womb are activated by sex hormones. This paradigm of sexual differentiation of the brain has been well established, ever since the first paper by Phoenix et al. (2). The fetal brain is protected against the effect of circulating estrogens from the mother by the protein α-fetoprotein, which is produced by the fetus and binds strongly to estrogens but not to testosterone (3,4). However, estrogens do not only reach th...

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Discordant Sexual Identity in Some Genetic Males with Cloacal Exstrophy Assigned to Female Sex at Birth

Abstract: Routine neonatal assignment of genetic males to female sex because of severe phallic inadequacy can result in unpredictable sexual identification. Clinical interventions in such children should be reexamined in the light of these findings.

Cited by 273 publications

References 34 publications

Changes Over Time in Sex Assignment for Disorders of Sex Development

Changes Over Time in Sex Assignment for Disorders of Sex Development

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Sexual differentiation of the human brain in relation to gender identity and sexual orientation

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