patho fina

• testis


  male gonad that regulates synthesis and secretion of testosterone and sperm production
• ovary


  female gonads that regulate the synthesis and secretion of estrogens and the development and maturation of ova
• genetic sex


  determined by the presence of XX or XY and determines gonadal sex
• XY develops Testis


  germ- produces sperm

  sertoli- produces anti-mullerian hormone

  leydig- produces testosterone
• XX develops ovary

  germ- produce oogonia

  theca- produces Progesterone and Androstenedione from cholesterol

  granulosa produce estrogens from androstenedione and progesterone
• development of male sex organ

  SRY forms testis that secrete anti-mullerian hormone that suppresses development of mullerian ducts and testosterone which promotes the development of wolffian (mesonephric) to make seminal vesicles, epididymis, ejaculatory duct, and ductus vas deferens
• development of female organ

  wolffian ducts regress and mullerian duct develops upper ends form fallopian tube (oviduct) lower ends fuse to form uterus cervix and upper vagina
• development of internal and external genital tract in men

  requires testosterone

  internal- SEED

  external- scrotum and penis
• development of internal and external genital in women

  requires estrogen and progesterone internal- fallopian tubes, uterus, upper 1/3 of vagina

  external- clitoris, labia minora and majora and lower portion of vagina
• HPG axis ( hypothalamic pituitary gonadal axis)


  regulates production of sex hormones; hypothalamus releases GnRH at week 4 of gestation and remains low until puberty where FSH and LH are produced from anterior pituitary during puberty
• primary event at puberty

  increased pulsatile secretion of GnRH which drives increased pulsatile secretion of FSH and LH during puberty which regulates secretion of sex hormones
• LH in testes


  promotes testosterone production from Leydig cells
• FSH in testes


  stimulates spermatogenesis in sertoli cells
• inhibin in testes


  produced from sertoli cells and inhibits FSH secretion from pituitary inhibiting spermatogenesis
• LH in ovaries


  stimulate theca cells to produces androstenedione from cholesterol and testosterone by action of 17BHSD; stimulate ovulation and formation and maintenance of corpus luteum which secretes progesterone and estrogens
• FSH in ovaries


  increases aromatase activity that converts androstenedione and testosterone to estrogen in granulosa cells; stimulates development of follicles that secrete estrogens
• testosterone


  male sex hormone produced from androstenedione by 17BHSD in testis that differentiates internal male genital at fetus and at puberty -growth spurt, closure of epiphyseal plates, growth of penis, deepingin, spermatogenesis
• Dihydrotestosterone


  produced from testosterone by 5a- reductase in target tissues and controls the differentiation of external genitalia at fetus and differentiation and growth of prostate and hair distribution in puberty
• 5a reductase inhibitor


  blocks DHT production and can be used as a treatment for prostatic hypertrophy and hair loss
• estrogen


  inhibits growth of facial hair, stimulate endometrial proliferation and initiate secondary sexual characteristics
• progesterone


  inhibits ovulation , inhibits uterine contraction, firms cervix and stimulate endometrium
• testosterone in femaile


  muscle development, libido, red blood cell creation, and skin collagen production and bone growth
• biologic events at puburty

  initiated by pulsatole activity of hypothalamic-pituitary axis and causes testes and ovaries to secrete their sex hormones
• benign prostatic hyperplasia (BPH)


  common in men over 50 and causes hyperplasia of both gonads and stoma by DHT function in growth of prostate and no BPH in castration and if enlarged prostate compresses urethral canal leading to urinary obstruction and incontinence
• Cryptochidism


  incomplete descend of testicles in scrotum ( uni or bilateral) malformed or elongated epididymis
• 46, XX Male

  abnormal crossing over between X and Y leading to insertion of Yp on X chromosome and SRY gene can transferred to X upon translocation ( SRY pos) or no transfer ( SRY neg)
• symptoms of 46, XX male

  infertility, atrophic testis with low leydig cells, absence of motile sperm, male breast enlargement, low testosterone, increased fsh lh and estrogen, no mullerian derived organs
• sewer syndrome


  fail to develop sex organs, testicles or, organs, have 46 XY genotype, do no develop penis or scrotum can be due to dysfunction of SRY
• clinical presentation of sewer syndrome

  phenotypically female with tall stature, primary amenorrhea, infertility, decreased estrogen
• Klinefelter Syndrome


  47, XYY paternal nondisjunction during meiosis II and can cause primary hypogonadism; presents will tall and long extremities, female hair distribution, gynecomastia, and infertility,
• turner syndrome


  45, X

  female missing X chromosome with short stature, streak gonad, bicuspid aortic varce, coarctation of aorta, and horseshoe kidney
• Kailmann Syndrome


  can be present in men and women and is a congenetical hypogonadotropic hypogonadism associated with dysfunction of olfactory bulbs lack of GnRH production leading to low FSH, LH, testosterone, progesterone, and low sperm and egg counts
• symptoms of kallmann syndrome


  ansomia, hyposomia, failure to start or fully complete puberty, poorly defined secondary sexual characteristics, lack of testicles in male, amenorrhea in female and infertility in both
• symptoms of CAH in female

  will have ovaries by have ambigunous genitalia and clitormegaly
• Androgen Insensitivity in male


  due to mutation in androgen receptors with elvelcated/ normal testosterone levels, defective testosterone receptors, no negative feedback, and high LH levels, receptors cannot bind to andrognes, normal appearing female with male genotype 46, XY
• symptoms of androgen insensitivity in male

  normal female external genitalia and develop female sex characteristics, short rudimentary vagina but no uterus or pubic hair, have undescended testes and identified when patients fail menarche
• 5-a reductase definciency in MALE


  AR defect in XY males cause there is an impaired conversion of testosterone to DHT; patient born with male internal genitalia but undescended- appears female but is male until puberty which makes them more masculine to increase levels of testosterone
• Aromatase deficiency in male and female

  AR; mutations in CYP19A1 causing decreased aromatase leading to reduced levels of estrogen (women) and increased testosterone (males) ; hyperglycemia occurs due to insulin resistance
• aromatase deficiency in females symptoms

  lack of menstruation and breast growth, ambiguous genitalia in female infants, acne and hirsutism in female adults
• Cryptorchidism


  failure of testes to descend into scrotum unilaterally or bilaterally , caused decreased sperm count and low levels of inhibin due to higher temperature of testes inside body