HR conditions

Kallmann syndrome

Anosmia and hypogonadotropic hypogonadism due to lack of GnRH neurons

Klinefelter syndrome

Xxy, infertility tall stature and gynecomastia

Turner Syndrome

45 XO, failure of ovarian development, short, webbed neck,

Hypogonadism

Silver-Russell Syndrome (SRS)

Intrauterine growth disorder due to loss of methylation of paternal ICR1 -> CTCF binding to prevent enhancers interacting with promoter of IGF2. Less placental & fetal growth. Chromosome 11p15.5

Beckwith-Wiedemann syndrome

Overgrowth disorder with macroglossia. Imprinting disorder at 11p15.5. Gain of methylation at ICR1 maternal copy -> no CTCF binding so extra copy of IGF2 transcribed-> overgrowth. Loss of methylation of maternal at ICR2 -> lncRNA Kcnq1ot1 produced -> represses Cdkn1c production (no cell cycle inhibition)

Placenta accreta, increta, percreta

Accreta= invasion through endometrium completely

Increta= invasion through into myometrium

Percreta= invasion beyond myometrium

- occurs w C-section scars

Prader-Willi Syndrome (PWS)

no paternal chromosome 15 gene expression

hypotonia, feeding difficulties & excessive weight gain

Angelman syndrome

no maternal chromosome 15 gene expression

severe developmental delay, mental retardation, unmotivated laughter

'too much man'

Sheehan's syndrome

post partum hypopituitarism due to ischaemic necrosis of anterior pituitary

- haemorrhage

Mesonephric duct (Wolffian duct)

Persists in males w androgen production from leydig cells

Degrades in females due to lack of androgens

Forms epididymis & vas deferens

KIR/HLA system

HLA C1 & C2 epitope

- KIR receptors that bind specifically to each

KIR A & KIR B

- A has only inhibitory

- B has inhibitory & activating

KIR A & C2 at risk

- due to inhibition of spiral artery remodelling -> pre-eclampsia & IUGR

Para-mesonephric duct (Mullerian duct)

Persists in females

In males- AMH from sertoli cells degrades

Forms oviduct & uterus

Fick's equation

rate of diffusion proportional to (SA x concentration gradient)/ mean diffusional distance

Total fertility rate

Number of babies per average reproductive lifetime

Gross reproductive rate

Average number of daughters per average reproductive lifetime (sex ratio of 105 boys to 100 girls)

Net reproductive rate

Average number of daughters that are expected to survive to reproductive age per average reproductive lifetime

Infant morality rate

probability of dying before 1st birthday

Kiss1 surge generator

Preoptic area: mediates positive feedback effect of oestrogen

Kiss1 pulse generator

Arcuate nucleus