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20 Cards in this Set
- Front
- Back
Different kinds of sex
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Chromosomal sex (do you have a Y or not?)
Gonadal sex (do you have testes or ovaries) Internal sex (do you have male or female plumbing) External or phenotypic sex (do you have male or female external organs) Psychosocial sex (gender identification) |
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Gametogenesis
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The process by which a primordial germ cell develop into a mature sperm (spermatogenesis) or egg (oogenesis).
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Sex differentiation
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The translation of gonadal sex into the acquisition of internal and external sex plumbing and organs.
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Sex determination
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Translation of genetic sex into gonadal sex.
Karyotype (46 XY or 46 XX) of the embryo (genetic sex) determine whether primordial gonad differentiates into a testis or an ovary respectively (gonadal sex). |
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How many X required for ovarian function and fertility
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2
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How many X copies required for phenotype
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1
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precursors of gametes
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primordial germ cells; start off in yolk sac and migrate to genital ridge; PGC develop into eggs or sperm depending on development of the gonads (ovary/testis)
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FSH
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stimulates follicle to produce estrogen; produced by anterior pituitary gland
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LH
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stimulates follicle to produce progesterone; produced by anterior pituitary
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karyotype of Turner syndrome
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XO (Hugs and kisses from tina turner)
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Origin of short stature in turners syndrome
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only 1SHOX allele
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pathogen of turners (XO)
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haploinsufficiency of certain genes on X chromosomes (genes that escape X-inactivation)
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karotype of klinefelters syndrome
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male, XXY (3 SHOX alleles = tall)
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pure gonadal dysgenesis (46XY)
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46XY karotype, SRY gene deleation, or SRY loss of function
no SRY = no sertoli cells = no antimullerian factor; external female genitalia, undevelpoed streak gonads, gonad development requires a 2 X chromosome complement |
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46 XY karotype + homozygous SOX 9 mutation
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sex reversal + camptomelic displasia
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46 XY karotype + duplication of DAX1 gene on X chromosome
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DAX1 represses SRY activity; blocks testes formation and mullerian duct regression
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male pseudohermaphrodite
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XY; androgen insensitivity syndrome; testes present but external genitalia are female/ambiguous
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female pseudohermaphrodite
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XX; ovaries present but external genitalia are virilized or ambiguous; excess exposure to androgenic steroids during early gestation (congenital adrenal hyperplasia or exogenous admin of androgens during pregnancy)
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androgen insensitivity syndrome
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no androgen receptor; normal appearing female w/o uterus or uterine tubes
no sexual hair; develops testes (often found in labia majora, surgically removed to prevent malignancy); increased testosterone, estorgen, LH (vs sex chromosome disorders) |
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5-alpha reductase deficiency
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cant convert testosterone to DHT
ambiguous genitalia until puberty when increased testosteorne cause masculinization/increased growth of external genitalia. Testosterone/estrogen levels are normal; LH is normal or increased. "Penis at 12." internal genitalia are normal |