Gender Identity of Children and Young Adults with 5α-Reductase Deficiency

Praveen, Edavan Pulikkanath; Desai, Ankush; Khurana, Madan Lal; Philip, Jim; Eunice, Marumudi; Khadgawat, Rajesh; Kulshreshtha, Bindu; Kucheria, Kiran; Gupta, Devendra K.; Seith, Ashu; Ammini, AC

doi:10.1515/jpem.2008.21.2.173

Cited by 25 publications

(20 citation statements)

References 19 publications

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“…We opine that if treatment is initiated at a young age, it may help in lessening parental anxiety. There is a preferance towards male genitoplasty in these patients as reported by Ammini et al in their cohort [2]. Similar gender reversal at puberty has been described in 56-63 % of patients with 5-α reductase deficiency from Dominican Republic, New Guinea, south Lebanon and Turkey who had been raised as females [3].…”

supporting

confidence: 83%

5 α-Reductase Type 2 Deficiency — Response to Dihydrotestosterone Gel: Authors’ Reply

2013

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supporting

confidence: 83%

5 α-Reductase Type 2 Deficiency — Response to Dihydrotestosterone Gel: Authors’ Reply

2013

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“…This story illustrates the enormous programming influence of the intrauterine period on gender. Other cases have been described in the literature (32), due to enzymatic disorders (33)(34)(35) or to cloacal exstrophy (36), that support the existence of early permanent programming of brain sex by biological factors and androgen exposure, rather than by social environment and learning (17,37).…”

Section: Programmed Gender Identity Is Irreversiblementioning

confidence: 99%

“…However, when testosterone production increases in these XY children during puberty, this "clitoris" grows to penis size, the testicles descend, and the child's build begins to masculinize and become muscular. Despite the fact that these children are initially raised as girls, the majority (60%) change into heterosexual males (24,34,35,42,43), apparently due to the organizing effect of testosterone on early brain development. Boys who are born with a cloacal exstrophy -i.e.…”

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

125

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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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“…Most individuals raised as girls develop a male gender identity and male gender role in adolescence and early adulthood, possibly as a result of pre-and postnatal brain exposure to androgens. 36,38 The virilisation at puberty is commonly associated with a change in gender role in affected individuals who are not diagnosed in infancy and are raised as girls. A significant number of affected individuals still live as females, although most patients develop a male gender identity in adolescence.…”

Section: Discussionmentioning

confidence: 99%

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

Skordis

Shammas

Efstathiou

et al. 2011

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The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype. cAse rePOrt: A 14-year-old girl presented with primary amenorrhea (PA) and lack of breast development. she was 173 cm in height, had an increased amount of pubic hair and clitoromegaly (3 cm), with a 4 cm blind vaginal pouch. Gonads were palpable in the inguinal canal bilaterally and no uterus was identified on ultrasound. chromosomal analysis showed a 46,XY karyotype. the testosterone/DHt ratio was high (16.5) and further increased to 29.4 after stimulation with hcG, thus favouring the diagnosis of 5α-reductase deficiency. Since the issue of gender change was not considered, gonadectomy was performed followed by successful feminisation with hormonal replacement therapy. GeNetIc stUDIes: Molecular analysis of the SRD5A2 gene by DNA sequencing of all 5 exons revealed the presence of the splice mutation A>G at position -2 of the acceptor site of intron 1/exon 2 (Ivs1-2A>G) in homozygosity. both non-consanguineous parents were found to be heterozygotes for this mutation. cONcLUsIONs: Although rare, SRD5A2 gene defect should be suspected in any girl presenting with PA and virilisation at puberty. the Ivs1-2A>G mutation of the SRD5A2 gene predominates in Greek-Cypriot patients with 5α-reductase deficiency and very likely reflects a founder effect.

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Gender Identity of Children and Young Adults with 5α-Reductase Deficiency

Cited by 25 publications

References 19 publications

5 α-Reductase Type 2 Deficiency — Response to Dihydrotestosterone Gel: Authors’ Reply

5 α-Reductase Type 2 Deficiency — Response to Dihydrotestosterone Gel: Authors’ Reply

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

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

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