Sex Shit Flashcards
Turner Syndrome - Karyotype
45, XO
Turner Syndrome - Mechanism
Meiotic nondisjunction
only 50% are pure 45, XO (survival might be due to mosaicism)
Turner Syndrome - Child Clinical Presentation
most common chromosomal abnormality in spontaneous abortions
At birth - prenatal cystic hygroma webbed neck puffy hands and feet heart defects (coarctation of aorta)
Turner Syndrome - Adult Clinical Presentation
normal intelligence infertility (non functioning ovaries) hormone dysfunction low set ears broad chest gonadal dysgenesis
Klinefelter - Karyotype
47, XXY
Klinefelter - Mechanism
Meiotic nondisjunction
Klinefelter - Child Clinical presentation
learning disabilities
delayed speech and language
quiet
Klinefelter - Adult Clinical presentation
Tall decreased facial and body hair infertility hypospadias - urethra underside of penis gynecomastia - breast tissue swelling
Jacobs - Karyotype
47, XYY
Jacobs - Mechanism
Meiotic nondisjunction
paternal meiosis II probably
Jacobs - Clinical presentation
physically normal learning disabilities speech delay developmental delay behavior and emotional difficulties autisum spectrum disorders
Triple X - Karyotype
47, XXX
Triple X - clinical presentation
tall
increased risk of learning disabilities, delayed speech, delayed motor milestones, seizures, kidney abnormalities
Androgen Insensitivity - Inheritance
X-Recessive
Autosomal recessive
Androgen Insensitivity - Karyotype
46, XY
Androgen Insensitivity - Mechanism
Androgen receptor mutation
Body makes androgens but doesn’t recognize/respond to it, so doesn’t form male external genitalia
Androgen Insensitivity - clinical presentation
XY with internal male genitalia but external ambiguous or female genitalia
external phenotypes range from partial to complete
5-alpha reductase deficiency - Inheritance
Autosomal recessive
5-alpha reductase deficiency - Karyotype
46, XY
5-alpha reductase deficiency - Associated gene
5-alpha reductase
5-alpha reductase deficiency - Mechanism
can’t convert testosterone to DHT
5-alpha reductase deficiency - Clinical presentation
undervirilized male (possibly looked female) increased virilization at puberty
Denys-Drash & Frasier Syndrome - Karyotype
46, XY
Denys-Drash & Frasier Syndrome - Associated Gene
WT1 gene
Transcription factor for SRY gene
Denys-Drash & Frasier Syndrome - Clinical presentation
Sex reversal XY to female
internal and external ranges
increase chance of wilms tumor, chronic kidney disease
SRY Gene disorders - Inheritance
Y Linked
SRY Gene disorders - List
Deletion SRY in 46, XY
Mutation in SRY gene in 46, XY
Ectopic SRY in 46, XX
SRY Gene Disorders – Karyotype
46, XY or 46, XX
SRY Gene
Testis determining factor, transcription factor
responsible for initiation of male sex determination
Deletion SRY in 46, XY - Clinical presentation
full sex reversal male to female
Mutation in SRY gene in 46, XY - Clinical presentation
decreased or zero production of anti-mullerian hormone
undervirilization of male
Ectopic SRY in 46, XX - Clinical presentation
full sex reversal female to male
Congenital Adrenal Hyperplasia - Inheritance
Autosomal recessive
Congenital Adrenal Hyperplasia - Karyotype
46, XX
Congenital Adrenal Hyperplasia - Mechanism
21-hydrozylase deficiency
(normally aids in synthesis of cortisol and aldosterone)
Increase in ACTH secretion due to no negative feedback via cortisol, leads to overproduction of androgens
complicated by salt wasting in first weeks of life and with metabolic stress
Congenital Adrenal Hyperplasia - Clinical presentation
Ambiguous genitalia
