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Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

Published on Dec 1, 2018in Psychoneuroendocrinology 4.73
· DOI :10.1016/j.psyneuen.2018.05.003
Anna Strandqvist3
Estimated H-index: 3
(Karolinska Institutet),
Agneta Herlitz39
Estimated H-index: 39
(Karolinska Institutet)
+ 4 AuthorsAnna Nordenström29
Estimated H-index: 29
(Karolinska Institutet)
Abstract
Abstract Background Many questions regarding the mechanisms behind sex differences in cognitive abilities are still unanswered. On a group level, men typically outperform women on certain spatial tasks, whereas women perform better on certain tests of memory and verbal ability. The prevailing theories concerning the biological predispositions for these and other differences in behaviour and brain function focus on early and prolonged exposure to sex hormones. There is, however, evidence of direct effects of sex chromosomes on sex-typical behaviour in other species. Objectives To study the influence of sex hormones and sex chromosomes on cognition in women with Complete androgen insensitivity (CAIS) and Gonadal dysgenesis (GD). Methods Eighteen women with CAIS, 6 women with 46,XYGD, and 7 women with 46,XXGD were compared with age-matched male and female controls on tests of spatial and verbal abilities, memory functions, and emotion recognition. Results Women with CAIS, XYGD, and XXGD performed similar to female controls on cognitive tasks. However, on a test of emotion recognition, women with XXGD outperformed the other groups, whereas women with CAIS and XYGD performed similar to male controls. Conclusion Our results support theories of androgen effects on cognitive abilities and suggest that factors related to sex chromosomes may influence emotion recognition. Implications of an atypical sex hormone situation and sex chromosome variation are discussed.
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References67
Newest
Published on Apr 1, 2017in Human Brain Mapping 4.93
Ivanka Savic37
Estimated H-index: 37
(Karolinska Institutet),
Louise Frisén26
Estimated H-index: 26
+ 2 AuthorsAngelica Lindén Hirschberg34
Estimated H-index: 34
(Karolinska Institutet)
Women with complete androgen insensitivity syndrome (CAIS) have a male (46,XY) karyotype but no functional androgen receptors. Their condition, therefore, offers a unique model for studying testosterone effects on cerebral sex dimorphism. We present MRI data from 16 women with CAIS and 32 male (46,XY) and 32 female (46,XX) controls. Methods: FreeSurfer software was employed to measure cortical thickness and subcortical structural volumes. Axonal connections, indexed by fractional anisotropy, (FA...
10 Citations Source Cite
Published on Jan 2, 2017in Journal of Neuroscience Research 2.66
Frida Printzlau1
Estimated H-index: 1
(Great Ormond Street Hospital),
Jeanne Wolstencroft1
Estimated H-index: 1
(Great Ormond Street Hospital),
David Skuse57
Estimated H-index: 57
(Great Ormond Street Hospital)
The X chromosome has played a critical role in the development of sexually selected characteristics for over 300 million years, and during that time it has accumulated a disproportionate number of genes concerned with mental functions. There are relatively specific effects of X-linked genes on social cognition, language, emotional regulation, visuospatial, and numerical skills. Many human X-linked genes outside the X–Y pairing pseudoautosomal regions escape X-inactivation. Dosage differences in ...
13 Citations Source Cite
Published on Jun 1, 2016in Psychoneuroendocrinology 4.73
Karson T. F. Kung5
Estimated H-index: 5
(University of Cambridge),
Wendy V. Browne4
Estimated H-index: 4
(University of Cambridge)
+ 2 AuthorsMelissa Hines50
Estimated H-index: 50
(University of Cambridge)
Abstract During the first few years of life, girls typically have a larger expressive vocabulary than boys. This sex difference is important since a small vocabulary may predict subsequent language difficulties, which are more prevalent in boys than girls. The masculinizing effects of early androgen exposure on neurobehavioral development are well-documented in nonhuman mammals. The present study conducted the first test of whether early postnatal testosterone concentrations influence sex differ...
11 Citations Source Cite
Published on Mar 1, 2016in Cerebral Cortex 6.31
Judy van Hemmen2
Estimated H-index: 2
(Netherlands Institute for Neuroscience),
Dick J. Veltman49
Estimated H-index: 49
(VU University Medical Center)
+ 3 AuthorsJulie Bakker31
Estimated H-index: 31
(University of Liège)
Sex hormones, androgens in particular, are hypothesized to play a key role in the sexual differentiation of the human brain. However, possible direct effects of the sex chromosomes, that is, XX or XY, have not been well studied in humans. Individuals with complete androgen insensitivity syndrome (CAIS), who have a 46,XY karyotype but a female phenotype due to a complete androgen resistance, enable us to study the separate effects of gonadal hormones versus sex chromosomes on neural sex differenc...
21 Citations Source Cite
Published on Feb 1, 2016in Psychoneuroendocrinology 4.73
Marcia L. Collaer10
Estimated H-index: 10
(Middlebury College),
Peter C. Hindmarsh49
Estimated H-index: 49
(University College London)
+ 2 AuthorsMelissa Hines50
Estimated H-index: 50
(University of Cambridge)
Abstract Girls and women with classical congenital adrenal hyperplasia (CAH) experience elevated androgens prenatally and show increased male-typical development for certain behaviors. Further, individuals with CAH receive glucocorticoid (GC) treatment postnatally, and this GC treatment could have negative cognitive consequences. We investigated two alternative hypotheses, that: (a) early androgen exposure in females with CAH masculinizes (improves) spatial perception and quantitative abilities ...
9 Citations Source Cite
Published on Feb 1, 2016in Current opinion in behavioral sciences
Sheri A. Berenbaum29
Estimated H-index: 29
(Pennsylvania State University),
Adriene M. Beltz12
Estimated H-index: 12
(Pennsylvania State University)
Many important psychological characteristics show sex differences, and are influenced by sex hormones at different developmental periods. We focus on the role of sex hormones in early development, particularly the differential effects of prenatal androgens on aspects of gender development. Increasing evidence confirms that prenatal androgens have facilitative effects on male-typed activity interests and engagement (including child toy preferences and adult careers), and spatial abilities, but re...
22 Citations Source Cite
Published on Feb 1, 2016in Hormones and Behavior 4.42
Sven C. Mueller20
Estimated H-index: 20
(Ghent University),
T. Verwilst1
Estimated H-index: 1
(Ghent University)
+ 2 AuthorsMartine Cools29
Estimated H-index: 29
(Ghent University)
Few studies have examined the impact of androgen insensitivity on human spatial learning and memory. In the present study, we tested 11 women with complete androgen insensitivity syndrome (CAIS), a rare genetic disorder characterized by complete absence of AR activity, and compared their performance against 20 comparison males and 19 comparison females on a virtual analog of the Morris Water Maze task. The results replicated a main sex effect showing that men relative to women were faster in fin...
8 Citations Source Cite
Published on Jan 2, 2016in Journal of Sex Research 2.92
Franziska Brunner7
Estimated H-index: 7
(University of Hamburg),
Maike Fliegner4
Estimated H-index: 4
(University of Hamburg)
+ 3 AuthorsHertha Richter-Appelt20
Estimated H-index: 20
(University of Hamburg)
The perception of gender development of individuals with complete androgen insensitivity syndrome (CAIS) as unambiguously female has recently been challenged in both qualitative data and case reports of male gender identity. The aim of the mixed-method study presented was to examine the self-perception of CAIS individuals regarding different aspects of gender and to identify commonalities and differences in comparison with subfertile and infertile XX-chromosomal women with diagnoses of Mayer-Rok...
17 Citations Source Cite
Published on Aug 27, 2015in PLOS ONE 2.77
Simon Baron-Cohen136
Estimated H-index: 136
(University of Cambridge),
Daniel C. Bowen1
Estimated H-index: 1
(University of Cambridge)
+ 5 AuthorsMeng-Chuan Lai27
Estimated H-index: 27
The “Reading the Mind in the Eyes” test (Eyes test) is an advanced test of theory of mind. Typical sex difference has been reported (i.e., female advantage). Individuals with autism show more difficulty than do typically developing individuals, yet it remains unclear how this is modulated by sex, as females with autism have been under-represented. Here in a large, non-male-biased sample we test for the effects of sex, diagnosis, and their interaction. The Eyes test (revised version) was administ...
59 Citations Source Cite
Published on Aug 20, 2015in F1000Research
Phyllis W. Speiser28
Estimated H-index: 28
(Hofstra University)
Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summa...
8 Citations Source Cite
Cited By1
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Published on Mar 1, 2019in Hormones and Behavior 4.42
Anna Strandqvist3
Estimated H-index: 3
(Karolinska Institutet),
Lisa Örtqvist3
Estimated H-index: 3
(Karolinska Institutet)
+ 3 AuthorsAnna Nordenström29
Estimated H-index: 29
(Karolinska Institutet)
Abstract Background Hypospadias is a common malformation of the male external genitalia that results in urethral displacement with different levels of severity. Male genital development during the fetal period is dependent on androgen function, while the etiology of hypospadias differs and can be multifactorial. The psychosocial outcome is sometimes affected, but according to several studies acceptable. The question of whether hypospadias is associated with differences in psychosexual developmen...
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