Sex Shit Flashcards by Mai Nguyen

Turner Syndrome - Karyotype

45, XO

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Turner Syndrome - Mechanism

Meiotic nondisjunction

only 50% are pure 45, XO (survival might be due to mosaicism)

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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)

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Turner Syndrome - Adult Clinical Presentation

normal intelligence
infertility (non functioning ovaries)
hormone dysfunction
low set ears
broad chest
gonadal dysgenesis

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Klinefelter - Karyotype

47, XXY

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Klinefelter - Mechanism

Meiotic nondisjunction

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Klinefelter - Child Clinical presentation

learning disabilities
delayed speech and language
quiet

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Klinefelter - Adult Clinical presentation

Tall
decreased facial and body hair
infertility
hypospadias - urethra underside of penis
gynecomastia - breast tissue swelling

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Jacobs - Karyotype

47, XYY

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Jacobs - Mechanism

Meiotic nondisjunction

paternal meiosis II probably

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Jacobs - Clinical presentation

physically normal
learning disabilities
speech delay
developmental delay
behavior and emotional difficulties
autisum spectrum disorders

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Triple X - Karyotype

47, XXX

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Triple X - clinical presentation

tall

increased risk of learning disabilities, delayed speech, delayed motor milestones, seizures, kidney abnormalities

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Androgen Insensitivity - Inheritance

X-Recessive

Autosomal recessive

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Androgen Insensitivity - Karyotype

46, XY

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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