Applied Female Reproductive Physiology and the Anatomy of
the Female Genitourinary System
• From material provided by Professor Michael Chapman
• Modified February 2013
The Development of the Female
Action through specific genes on X
differentiation
Ovaries Mullerian ducts
tubes, uterus,upper 1/3 vagina
The Development of the Malespecific genes on Y chromosome (eg SRY-1)
differentiation
testis AMH/MIF
testosterone Mullerian duct suppression
Internal genitalia
prostate ,seminal vesicles, vas, epididymis, descent of testes
no uterus,tubes, upper vagina
Abnormal Sexual Development
- Chromosomal abnormalities
- Androgen receptor defects
- Enzyme deficiencies
- Exogenous/endogenous hormone exposure
- Anatomical abnormality
Turner’s Syndrome• Chromosomes 45 XO
• Short stature, low hairline, webbed neck, primary amenorrhoea
• 1:5000 females but common aneuploidy in miscarriage
• Normal female external & internal genitalia but with streak ovaries
• Will “menstruate” on The Pill
• Can carry a pregnancy if primed with E2 and PROG and donated egg/embryo
Klinefelter’s Syndrome
• Chromosomes 47 XXY
• Tall sometimes with gynaecomastia
• 1:750 males but may never be detected
• Normal male external genitalia but with small, soft testes and ↓testosterone
• Commonly infertile with azospermia
• Can be assisted to fatherhood using IVF/ICSI if any sperm can be found
Kallmann’s Syndrome
• Chromosomes can be 46XY or 46XX
• Absence of GnRH from the hypothalamus results in...
• Hypogonadotrophic hypogonadism
• Also have anosmia
• 1:4,000 males and 1:12,000 females
• Have male or female genitalia but will not enter puberty
• Can be treated with sex steroids or FSH/LH
Androgen Insensitivity Syndrome
• Chromosomes 46XY
• Classically a result of absent androgen receptors so all cells are unresponsive to testosterone
• Have female external genitalia but absent uterus and vagina and undescended testes
• Present with primary amenorrhoea but good breast development, absent pubic hair
• Testes are usually surgically removed
• But what do you tell these girls?
Congenital Adrenal Hyperplasia
• Chromosomes can be 46XY or 46XX
• A block in cortisol synthesis causes ↑ACTH and ↑androgens by the adrenals
• Females will exhibit virilization
• Babies have fused labia and clitoramegaly
• May require urgent identification and treatment with cortisol etc soon after birth
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