Disorders of sexual development

This is a brief video on congenital disorders affecting biological gender, the genitalia, and reproductive health. I created this presentation with Google Slides. Image were created or taken from Wikimedia Commons I created this video with the YouTube Video Editor. ADDITIONAL TAGS: Disorders of sexual development Congenital disorders affecting traits of gender, the genitalia, and reproductive health McCune-Albright syndrome Turner’s syndrome Klinefelter syndrome Androgen insensitivity syndrome 5 alpha reductase deficiency Kallmann syndrome McCune-Albright syndrome Genetic disorder causing precocious puberty Pathophysiology: defect in G3 alpha subunit protein makes it constitutively active Chimeric, so several/various tissues affected Gonadotropin-independent Clinical: early breast development, early puberty Hyperthyroidism, hyperparathyroidism, café-au-lait spots with “coast of Maine†borders Treat with aromatase inhibitors to limit estrogen Genetic disorder of delayed puberty and no periods (primary amenorrhea) Result of ovarian failure; streak gonads PE: short stature; shield chest with widely spaced nipples; webbed neck; and prepubertal vagina, uterus, and cervix Lab tests: high FSH, high LH, low estradiol Karyotype: 45 XO Associated: renal problems, autoimmune (Hashimoto's thyroiditis), cardiac (aortic coarctation, aortic aneurysm, mitral valve prolapse, bicuspid aortic valve) Treatment: growth hormone, hormone replacement, egg donation for childbirth (with significant risks) Neck webbing Genetic disorder affecting testicles Testicular atrophy causes dysfunction of leydig cells and seminiferous tubules Clinical: tall, gynecomastia, female hair distribution, long extremities, developmental delays Lab tests: increases LH and FSH, decreased testosterone, increased estrogen, decreased inhibin B Karyotype 47 XXY Androgen insensitivity syndrome AKA testicular feminization Caused by inactivating mutation in androgen receptor gene in end organs Male genotype, female phenotype, appears normal until pubertal age when menstruation doesn’t happen Short vagina with little sexual hair; no cervix, no uterus bc testes produce anti mullerian hormone during development Lab tests: FSH normal, LH normal, estrogen normal, LH:FSH is high, testosterone very high Treat with HRT, testes removal (usually in labia majora), expansion of vagina 5 alpha reductase deficiency 5 alpha reductase converts testosterone to dihydrotestosterone Genetic disorder, affects genetic males Internal genitalia are male; ambiguous external genitalia until puberty, when increase in testosterone causes sudden testicular enlargement, phallus/clitorus enlargement, deepening of voice, increased muscle mass “Penis at 12†syndrome Lab tests: high testosterone, high testo/DHT ratio, 46 XY karyotype Caused by “impaired migration of neurons†due to disorder in adhesion protein anosmin-1 Impaired migration of GnRH secreting neurons in the hypothalamus Impaired migration of olfactory neurons → anosmia Hypogonadotropic hypogonadism Clinical: delayed puberty, anosmia, amenorrhea/low sperm count Lab tests: low GnRH, low FSH, low LH, low estrogen Treat with HRT for most symptoms; treat with recombinant FSH for fertility By Neil Smith - Created ny a medical illustrator for the production of a booklet on Kallmann syndrome, CC BY-SA 3.0, en.wikipedia.org/w/index.php?curid=36507233 McCune-Albright syndrome Turner’s syndrome Klinefelter syndrome Androgen insensitivity syndrome 5 alpha reductase deficiency Kallmann syndrome