Repro Topic 3 - General Reproduction Flashcards
What causes stillbirth?
- Maternal
- Haemorrhage, diabetes mellitus, hypertensive pregnancy disorders, uterine rupture, advanced age, heavy smoking
- Foetal/placental
- Intrauterine growth retardation (placental insufficiency), placental abruption, infection, chromosomal abnormalities, congenital abnormalities, placental/umbilical complications, foetal hydrops
- Miscellaneous
- Unknown (50%), environmental factors
Describe the cause and presentation of dihydrotestosterone
- Occurs in small population in Dominican Republic
- No 5 alpha reductase gene (needed in the conversion of testosterone to dihydrotestosterone)
- XY children appear female - have blind vaginal pouch, enlarged clitoris and internal testes
- At puberty - testosterone wave, secondary sex characteristics develop (penis etc.)
Describe the cause and presentation of Turner’s syndrome
- XO genotype
- Primordial germ cells degenerate after arrival at genital ridge
- Causes failure of gonadal development - infantile genitalia, mesonephric duct regression, large hands, webbed neck
Define early pregnancy loss/early miscarriage
Loss of pregnancy in the first 12 weeks
Describe hormone therapy for transwomen
- Oestradiol valerate 1-2mg daily or oesdradiol 50meg/day transdermal patch
- Increase to 4-6mg daily or 100-200meg patch
- Anti-androgens
Describe the formation of the male urethra
- Androgens from testes cause genital tubercle to elongate into phallus
- Pulls urethral folds forwards, form lateral walls of urethral groove, close over urethral plate to form penile urethra
- Terminal part of male urethra (external urethral meatus) from surface ectoderm
What are the consequences of Klinefelter’s syndrome?
- Leydig cells have low testosterone production, so low sperm production
- Causes infertility, gynaecomastia, impaired sexual maturation
What complications can arise from the treatment of cryptorchidism?
- Haematoma
- Pain
- Wound infection
- Testicular atrophy
- Recurrent cryptorchidism - infertility
What questions should be asked when taking the history of an infertile couple?
- Age
- Personal and family history, congenital abnormalities
- Male
- Occupation
- Previous children
- Injuries
- Female
- Previous births/termination/miscarriages and complications
- Smears
Define miscarriage/spontaneous abortion
Loss of pregnancy in first 24 weeks
How may disorder of sex development present in a newborn?
- Overt genital ambiguity
- Apparent female genitalia - enlarged clitoris, posterior labial fusion, inguinal/labial mass
- Apparent male genitalia - bilateral undescended testes, micropenis, hypospadias
- Family history of DSD
- Discordance between genital appearance and prenatal karyotype
What structures develop from the paramesonephric (Mullerian) duct? How?
- Form the uterine tubes, uterus, vaginal canal
- Develop lateral to the gonads and mesonephric duct
- Responds to oestrogen
- Funnel-shaped cranial ends open into peritoneal cavity = infundibulum of uterine tubes
- Migrate caudally, parallel to mesonephric ducts
- Approach each other at midline - cranial = uterine tubes, caudal = uterovaginal primordium
- Males - degenerate due to anti-Mullerian hormone produced by Sertoli cells
List the ways in which missed/incomplete miscarriages are managed?
- Expectant management
- Medical management e.g. misoprostol
- Surgical management
When is chromosomal/genetic sex determined?
At fertilisation - XX is female, XY is male
What are the effects of oestrogen on transwomen?
- Breast growth
- Softer skin
- Less facial/body hair
- Fat redistribution to hips
- More emotional
What is a missed miscarriage?
- Unrecognised intrauterine death of the embryo or foetus without loss of the pregnancy from the body
- 15% of clinically diagnosed pregnancies
- Women may have no self awareness due to lack of obvious symptoms - may still experience sickness, tender breasts, tiredness (typical of pregnancy)
Which structures contribute to the developing bladder?
Anterior urogenital sinus and the caudal parts of the mesonephric duct
When is sex determined?
- Genetic sex is determined at fertilisation
- Gonads differentiate into male or female at week 7
- Genital duct development
- Gonadal development
- External genitalia development
What preventative measures should be taken in those who have undergone gender reassignment?
- Smears - FTM if cervix still present
- Prostate cancer screening
- MTF less risk due to oestrogen and anti-androgen, screen as for non-trans males
- Breast cancer screening
- FTM still some breast tissue - self-examination, refer breast lumps as usual
- MTF - offer breast screening
- General health monitoring - blood pressure, LFTs, hormone levels etc.
What are transvaginal scans used for?
- Antral follicle count
- Normal = 6-8
- More - polycystic ovaries
- Less - older/infertility
List the features of testicular dysgenesis syndrome
- Hypospadias
- Micropenis
- Low semen quality
- Testicular cancer
- Cryptorchidism
What is the cause of hypospadias?
Usually no specific underlying cause - associated with testicular dysgenesis syndrome, gives higher risk of cryptorchidism/inguinal hernias etc.
What are the complications of ectopic pregnancy?
- Main risk = rupture of uterine tube
- Sharp, sudden and intense pain in abdomen
- Dizziness
- Nausea
- Pallor
What is a hydrocoele and how can it be identified?
Excess fluid in the tunica vaginalis
Transluminate - red colour
When do the genital ducts develop?
Week 5-6
Define cryptorchidism
Impalpable or undescended (can be felt in abdominal cavity) testes (bilateral or unilateral)
When does the mesonephros become the metanephros?
Metanephros appears at week 5, becomes functional at week 11
Definitive kidney - produces small amounts of urine
How is HPO dysfunction treated?
Clomid/letrozole/metformin/gonadotrophins
Describe the somatic cells of the developing male gonads
- Somatic cells - Leydig (testosterone producing) and Sertoli (anti-mullerian hormone producing) cells
- Sertoli cells are present antenatally then disappear until puberty
- Leydig cells disappear after week 17/18 - don’t reappear until puberty
How is termination of pregnancy for foetal anomaly carried out?
- Medical (early gestation) - mifepristone and misoprostol
- Surgical - dilation of cervix and removal of foetus and placenta (safer in 2nd trimester than medical)
- Induction of labour and delivery of the foetus and placenta
- Should be offered choice wherever possible
Describe the classification of cryptorchidism
- Position (abdominal, inguinal, prescrotal)
- Position over time
- Aetiological factors
- Rectractile? - not usually a problem, can become fully retracted and need treatment
What surgery is available for transwomen?
- Thyroid chondroplasty (Adam’s apple)
- Penectomy, orchidectomy, clitoroplasty, vulvoplasty and penile inversion vaginoplasty
- Colovaginoplasty
- Breast augmentation
What are the male and female genital ducts?
Paramesonephric (Mullerian) ducts = female
Mesonephric (Wolffian) ducts = male
How does the indifferent embryo become female?
- No SRY (XX)
- Active signals e.g. Wnt (silenced in males)
- Primordial germ cells migrate to genital ridge, surface epithelium develops and proliferations (not as tough as males as gonads are internal so require less protection)
- Primordial germ cells develop into a pool of oogonia via mitosis, enter mitotic arrest at 4th month as oocytes (Prophase II)
- Oocytes become associated with follicular cells - primordial follicles
How do the external genitalia form?
- 2 cloacal folds develop around the cloacal membrane - join cranially to form the genital tubercle
- Genital tubercle = phallus in males, clitoris in females
- Caudally stay divided
- Urethral folds in front - labia minora in females
- Anal folds behind
- Genital swellings around urethral folds - form scrotal swellings in male, labia majora in females
How is an endometrial scratch used to treat infertility?
- Offerred if recurrent implantation failure
- Scratch endometrium to help implantation
How is testicular cancer identified?
Hard lump on testes
What is epididymitis?
Inflammation of epididymis due to infection, can lead to orchitis
Describe the WHO criteria for normal semen
- Volume = 1.5ml
- pH 7.2
- Sperm concentration = 15 million per ml
- Total count = 39 million per ejaculate
- Motility = 40% progressive and non-progressive movement, 32% progressive
- Viability = 58% live spermatozoa
- Morphology = 4% normal forms
When does external genitalia in males and females occur?
Week 3
Describe the development of the gonads before differentiation into male and female
- Pair of longitudinal ridges (week 5 - indifferent) - urogenital/gonadal ridges
- Mesoderm projects into coelonic cavity
- Primordial germ cells originate from yolk sac, move to genital ridge via dorsal mesentery - forms primitive gonad
- Need to move by week 6, if not will be infertile
- Gonad indifferent until week 7
- Primordial germ cells form primitive sex cord
List the kidney precursors which arise during development
- 3 sets of kidney structures during development - formed cranial to caudal
- Pronephros - cervical
- Mesonephros - abdominal
- Metanephros - pelvic
What investigations should be done in men experiencing infertility?
- Semen analysis
- Urology examination to look for blockage in epididymis
- CF screening
- Y chromosome deletion diagnosis
- Karyotyping
- Baseline FSH - are sperm being produced?
- Surgical sperm removal from testes/epididymis - used in ISCI
Describe medical management of incomplete/missed miscarriages
- Administer misoprostol vaginally/orally
- Side effects - pain, fever, diarrhoa and vomiting
- Give information/support about length/extent of bleeding to expect
- Offer pain relief and anti-emetics
- If bleeding doesn’t occur within 24 hours further treatment required
- Less invasive, more autonomous and feels more natural than surgical intervention
Define transgender
Alteration in perception of ones gender from that assigned at birth
What is a complete miscarriage?
All pregnancy tissue has left body
What is the ureteric bud?
Protrusion of the mesonephric duct, allows drainage of urine
Define dual role transvestism
Wearing clothes of opposite sex for part of the individual’s existence to enjoy the temporary experiecne of membership of the opposite sex, without desire for more permanent sex change of associated surgical reassignment, and without sexual excitement accompanying the cross-dressing
Describe the hormonal therapy regime for transmen
- Sustanon 125mg IM injection 3x weekly
- Testosterone gel 20-25mg daily
- Nebido 1000mg 12 weekly
- Dose increased with time
- Suppress menstruation:
- GnRH analogues
- Contraception - progesterone only e.g. Depo provera or implant
How is HPO failure treated?
Pulsatile GnRH or gonadotrophins with LH
What structures develop from the mesonephric (Wolffian) ducts? How are these structures formed?
- Forms the ductus deferens, ejaculatory ducts and the epididymis under the influence of testosterone
- Testosterone produced under influence of male genes
- Females - low testosterone levels, mesonephric duct disappears
What is the cause and presentation of testicular feminising syndrome?
- XY genotype - mutation on X causes deficiency in androgen receptors
- Testes produce testosterone but it can’t act on target tissues
- Female external phenotype, internal testes
- Uterus and upper vagina degenerate due to the presence of AMH
What are the differences between direct and indirect inguinal hernias?
- Inguinal hernia indicated by a lump you can’t get above
- Indirect - in infancy, inguinal ring fails to close in utero
- Direct - adulthood, occurs when wall of abdominal wall become weak
How is ectopic pregnancy treated?
- Dependent on symptoms, size of pregnancy and level of HCG
- Expectant - close monitoring, chance pregnancy will end itself
- Medical - methotrexate
- Interferes with folate levels, stops development of the foetus which is then reabsorbed by the body
- Used when HCG levels are low - no risk of rupture
- Must avoid pregnancy for next 3 months to allow folate levels to return to normal
- Surgery - removal or pregnancy, usually along with affected ovarian tube, keyhole
How many pregnancies/infants are lost?
1 in 4