Summary Concept List for 'Human Development' (AB_1140)
8 views 0 purchase
Course
Human Developement (AB_1140)
Institution
Vrije Universiteit Amsterdam (VU)
IMPORTANT concepts that you need to know for the exams of 'Human Development' (AB_1140). Writing these down and studying them helped me pass the course with a 7.
Turner syndrome
- Complete/partial absence of one X chromosome (45, XO)
- Short stature, webbed neck, broad chest
- Females often do not undergo puberty
- Infertility (due to ovarian dysgenesis), risk of cardiovascular and kidney abnormalities
Klinefelter syndrome
- Males with an extra X chromosome (47, XXY)
- Tall stature, reduced muscle mass, gynecomastia, sparse body hair
- Testicular atrophy (shrinking)
- Infertility (due to impaired spermatogenesis), risk of breast cancer and osteoporosis
Altered FSH release
- Altered FSH levels can affect puberty and reproductive functions
- In females, FSH stimulates ovarian follicle growth
• Abnormal FSH levels result in irregular menstrual cycles and infertility
- Males: FSH stimulates spermatogenesis
• Abnormal FSH levels lead to reduced sperm production
SRY gene
- Sex-determining region Y gene, located on the Y-chromosome
- Initiates testis determination, leading to androgen secretion and male differentiation
- Presence of SRY → testicular development → fertile, typical puberty
- Absence of SRY → ovarian development
Swyer syndrome
- SRY mutation 1
- 46, XY individuals, but phenotypically female
- Due to failure in testicular development
- Female external genitalia
- Lack of functional ovaries
- Absence of uterus and fallopian tubes
- Infertile due to lack of functional ovaries
- Oestrogen replacement therapy is necessary for sexual development, bone health
SRY translocation
- SRY is normally located on the Y chromosome
- Translocation to the X chromosome can cause disorders of sex development
, - Infertility, risk of gonadal tumours
- Gender identity issues
- If a foetus is conceived from a sperm cell with an X chromosome bearing the SRY gene,
it will develop as a male despite not having a Y chromosome
De la Chapelle syndrome
- Translocation of SRY to an X chromosome
- 46, XX individuals, but phenotypically male
- Male external genitalia with testicular development
- Normal fertility if testes are present
- Hormone replacement therapy is possibly needed for masculinization and secondary
sexual characteristic development
X-inactivation
- Random silencing of one of the two X chromosomes in females
- Xist initiates inactivation, Tsix negatively regulates Xist expression
- The chromosome remains inactive throughout cell divisions. If Tsix fails to suppress
Xist on the intended active X chromosome, both X chromosomes may be partially
inactivated or fail to inactivate properly, leading to abnormal gene dosage effects
- Primary sex characteristics: Disrupted normal ovarian development and function
- Secondary sex characteristics: Underdeveloped, irregular or absent menstrual cycles,
delayed puberty
- Genetic females (XX) with disrupted X-inactivation typically identify as female, but
abnormalities can affect gender expression due to hormonal imbalances
- Reduced fertility or infertility (due to disrupted ovarian function)
- Physical and intellectual development are affected if critical genes on X chromosomes
are not properly regulated
Androgen insensitivity syndrome (AIS)
- Mutation in the androgen receptor gene on the X chromosome
- Individuals with AIS typically have a 46, XY karyotype
- Inability of androgens to exert their effects, resulting in incomplete masculinization
- Male:
• Male genotype (46, XY)
• Undescended/incompletely descended testes due to lack of response to androgens
• Typically female external genitalia, sparse body hair, and breast development at
puberty due to aromatization of androgens to oestrogens
• Infertile
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller wjj3008. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $5.42. You're not tied to anything after your purchase.
