Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
26 Cards in this Set
- Front
- Back
|
sex determination definition
|
gonad differentiation into ovary or testes
|
|
|
sex differentiation definition
|
development that occurs after gonads have differentiated - formation of reproductive organs
gonadal sex -> phenotype male or female |
|
|
two hormones needed for male differentiation
|
testosterone
anti-mullerian hormone |
|
|
what does testosterone do during male differentiation
|
forms epididymis, seminiferous tubules, vas deferens (wolfian structures)
|
|
|
DHT is important in what part of male development
|
external genetalia
|
|
|
IGF-3
|
secreted by leydig
causes testes to decend |
|
|
urethral folds develop into
|
female: labia manora
male: corpora, urethra |
|
|
genital tubercle develops into
|
female: clitoris
males: glans |
|
|
labioscrotal swelling develops into
|
female: labia majora
males: scrotum |
|
|
female exposed to testosterone during the first 12 weeks of dev
|
disruption of urethral fold and libioscrotal
after 12 weeks, get clitoralmegaly |
|
|
female development
|
need two X chromosome
granulosa cells secrete estradiol - without testoserone -> degen wolfian, formation of vagina no antimullarian hormone -> mullerian strucutres -> uterus, fallopian tubes |
|
|
duplication of DAX
|
unervirulization of males
|
|
|
PAX-2
|
needed for male determination and differentiation
important in wolffian duct formation |
|
|
3 different classifications of DSD
|
46, XX DSD - virulized female
46, XY DSD - undervirulized male Sex chromosomal DSD |
|
|
causes of 46, XX DSD
|
disorders of ovarian dev
1. testicular DSD (SRY+) 2. gonadal dysgen 3. Ovotesticular DSD Androgen Excess 1. CAH 2. Aromatase Deficinecy 3. gestational hyperandrogenism |
|
|
most common genotype for ovotesticular DSD
|
46, XX
|
|
|
ovotesticular DSD
|
see ambigous genetalia, cryptorchidism, ovotestis in labio scrotoal fold often
wolffian and mullerian ducts differntiate after that of the homolateral gland breast development and virilization of puberty 10% SRY+ |
|
|
types of CAH
|
salt wasting (most severe)
mild virilization (normal aldosterone, low cortisol, high testosterone) late onset CAH |
|
|
symptoms of severe 21OHase def
|
diarrhea, comiting, metabolic acidosis, hyponatremia, hyperkalemia
males present later females - cliteromegaly easier to catch |
|
|
lab test for severe 21OHase deficiency
|
17OH progesterone
hyponatremia, hyperkalemia low cortisol increased Renin |
|
|
symptoms for 21OH deficiency mild nonclassic
|
accelerated growth at 4 years
facial acne clitoral enlargement tall, weighs more bone age is 10 years aldosterone is okay, decresaed cortisol and increased testosterone |
|
|
46, XY DSD causes
|
disorders of testicular dev:
1. ovotesticular DSD 2. gonadal dysgenesis 3. testis regression disorders of hormone synthesis: 1. disorder of androgen synth (5alpha reductase def) 2. androgen insensitivity 3. |
|
|
46 XY gonadal dysgnesis
|
SRY gene deleted
female phenotype testes fail to differentiate, no leydig cell or sertioli cell -> no testosterone or AMH --> female genetalia, hypoplastic mullerian structure |
|
|
3-BHSD deficiency
|
low aldosterone, cortisol, and testosterone
increased DHEA males become undervirulized females are virulized |
|
|
5alpha reductase deficinecy
|
46, XY
auto recessive mutation in SRD5A2 gene get ambigious external genetalia, normal internal male organs |
|
|
androgen insensitivity syndrome
|
x-linkers disorder of male sex differntiation
external genetalia: complete form - female with blind pouch partial form - ambiguous with micropenis, cryptorchidism, hypospadia gonad is testes compleye AIS usually presents at puberty with primary amenorrhea absent pubic and axillary hair with bread dev |
