Diversity in Sex Development (AQA A Level Psychology): Revision Note

Androgen insensitivity syndrome

• Diversity or differences in sex development (DSD) is the modern term for the congenital variations in chromosomal, hormonal or anatomical sex characteristics that mean a person’s sexual development differs from the typical XX or XY pattern

  • The term DSD replaces older labels such as “disorders of sex development,” “intersex,” or "atypical sex chromosome patterns"

• Androgen insensitivity syndrome (AIS) impacts the development of a person’s genitals and reproductive organs and affects approximately 1 in 20,000 individuals

• People with AIS have XY (male pattern) chromosomes

• The cause of AIS is genetic, involving the inability to respond to androgens fully or partially, due to androgen receptor dysfunction, i.e., insensitivity to androgens that produce a physical male appearance

  • A consequence of this is that it impacts the sex development of typical male genitals

    • E.g., a penis does not form or is underdeveloped, meaning that the child's genitals may develop as female or are underdeveloped as male

• There are two types of AIS:

  • Complete androgen insensitivity syndrome (CAIS), where the genitals of a person with CAIS appear female

    • CAIS can be difficult to spot at birth, as the genitals usually look like those of a biological female; it is usually diagnosed at puberty when menstruation does not start and other secondary sexual characteristics do not develop, such as pubic and underarm hair

  • Partial androgen insensitivity syndrome (PAIS), where the genitals of a person with PAIS may appear as female or male

    • PAIS is usually discovered at birth because a baby's genitals are not as expected for a baby boy or baby girl

• The genetic alteration that causes AIS is passed along the female line to the child

  • Women who carry the genetic alteration will not have AIS themselves, but as their genes are passed on to the embryo during fertilisation, there's a 1 in 4 chance that each child they have will be born with AIS

• In terms of reproductive organs, a person with AIS has no uterus or ovaries, as their genotype is male, XY

Klinefelter's syndrome

• Any combination of sex chromosomes other than XX (female) and XY (male) is referred to as atypical

• These patterns can be inherited, or may occur at conception or be due to division of the human reproductive cells before fertilisation of the egg and sperm cells

• All babies will have an X chromosome, as human life cannot exist without this, but XXY, XYY, and XO (where the additional X is missing) are all possible

Klinefelter’s syndrome (KS)

• KS affects about 1 in every 600 males (Klinefelter’s Syndrome Association, 2023)  and involves having an extra X (female) chromosome, giving the atypical sex chromosome pattern of XXY and an excess of  oestrogen in the body

• KS is due to an error in the egg cell when it develops, or if the father’s sperm carries an extra X chromosome

• KS may not be discovered until puberty, especially in the case of the much more common and milder ‘mosaic’ KS, where only some of the boy’s cells have the XXY chromosomal pattern and the others are normal

• KS is incurable, but treatment with additional testosterone can increase muscle and bone development, though it cannot reverse infertility

The characteristics of Klinefelter’s Syndrome

Turner's syndrome

• Turner's syndrome affects about 1 in every 2,000 live female births (Turner Syndrome Support Society, 2023) and involves having all or part of an X chromosome missing, denoted by the atypical sex chromosome pattern XO

• In genetic terms, the foetus is neither male nor female because the second sex-determining chromosome is absent

• However, babies with TS are born and develop as females because there is no Y chromosome to direct the foetal gonads to develop male characteristics

• TS occurs at conception, and the cause is not precisely known, but is thought to be due to an error in the division of a parent’s reproductive cells

• TS also has a ‘mosaic’ form where only some cells are affected

• Most affected females will require hormone replacement therapy to develop breasts and normal female body contours, undergo proper bone growth and begin menstruation

Characteristics of Turner’s Syndrome

Research which investigates atypical sex chromosome patterns 

• DeLisi et al. (2005) conducted a clinical interview, cognitive tests and an MRI scan on KS and non-KS individuals and found that 10 out of 11 of the KS participants had mental health and cognitive issues and also had smaller frontal lobes, temporal lobes and superior temporal gyrus brain areas, suggesting a biological basis for their language deficits and cognitive difficulties

• Quigley et al. (2014) investigated the positive effects of oestrogen replacement therapy in treating TS and found that if treated before puberty, then females with TS would have a greater increase in breast tissue, suggesting early diagnosis and treatment are vital

Evaluation of atypical sex chromosome patterns research

Strengths

• Research into both KS and TS has allowed for early intervention with hormone treatment and, in some cases, the freezing of sperm or eggs to counteract the infertility of both groups

• The identification of KS and TS has led to the growth of online support groups for individuals with the syndromes and their relatives, where they can be well informed about advances in knowledge and treatment, and they can communicate with others in the same position

Weaknesses

• Research into KS and TS lacks population validity, as those who are diagnosed with these syndromes will be those with the severest symptoms and therefore research is based on an unrepresentative sample, as it excludes those who have milder symptoms, who are often those with the mosaic form

• Research into both syndromes also ignores individual differences in the symptoms and progression of symptoms, meaning that diagnosis and treatment may lack validity, being based on generalised assumptions rather than on an individual basis

Link to Issues and Debates:

The research into the psychological effects of KS and TS is reductionist, ignoring the complexities experienced by individuals growing up looking very different from their peers and also, in some cases, especially in KS, being at an intellectual and emotional disadvantage as well. It is simplistic to suggest that differences in something as complicated as gendered behaviour are purely the result of chromosomes. A more holistic approach would be to use qualitative methods to investigate the experiences and reasons for the behaviour of those growing up with these atypical sex chromosome patterns.