Transcript Applied Female Reproductive Physiology and the anatomy of the

Applied Female Reproductive
Physiology and the Anatomy of
the Female Genitourinary
System
• Modified from material provided by
Professor Michael Chapman
• Revised February 2016
•
Laparoscopic view of pelvis
Tubal Dye Studies
Normal Female Pelvis
•
ENDOMETRIOSIS
•
Cervical polyp
CERVICAL
CANCER
External Genitalia (Female)
•
Structural
abnormality
Imperforate
hymen
Anatomical
abnormality
Double vagina
Uterus
didelphys
The Pelvic Floor
Course of the Ureter in Females
Reproductive Physiology
(Female)
Female Menstrual Cycles
Implantation
ENDOMETRIAL CYCLE
Changes in
during cycle
uterine lining
Window of Receptivity
The Development of the Female
WHAT MAKES A GIRL,
A GIRL?
The Development of the Female
XX vs XY
Chromosomal Determination
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 Male
specific genes on Y chromosome (eg SRY-1)
differentiation
testis
testosterone
Internal genitalia
prostate ,seminal vesicles,
vas, epididymis, descent of
testes
AMH/MIF
Mullerian duct
suppression
no uterus,tubes,
upper vagina
Abnormal Sexual Development
-
Chromosomal abnormalities
Androgen receptor defects
Enzyme deficiencies
Exogenous/endogenous hormone
exposure
- Anatomical abnormality
Chromosomal
abnormality
Turner’s
Syndrome
Gonadal
dysgenesis
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
Chromosomal
abnormality
Klinefelter’s
Sydrome
Klinefelter’s Syndrome
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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
Gene defect
Kallmann’s
Syndrome
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
receptor
defect
Testicular
feminisation
Androgen
insensitivity
syndrome
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?
Endogenous
androgen
excess
Congenital adrenal hyperplasia
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
5-alpha-reductase deficiency
• This enzyme converts Testosterone to Dihydrotestosterone
in peripheral tissue
• Affects males i.e. those who are XY
• Often raised as girls because testes are undescended at
birth and external genitalia appear female with
hypospadias
• However identify as male & undergo spontaneous sex
change at puberty when T levels rise and DHT is produced
by alternative enzymes in the liver and testes
• Autosomal recessive condition. Very rare, seen only in
Dominican Republic, PNG and Turkey
• Affects 1:90 males in the remote village of Salinas in the
Dominican Republic where they are called “Guevedoces”
= “penis at 12”
Catherine and his cousin Carla
“Guevedoces” from the Dominic Republic feature in
Michael Mosely’s BBC Feature, “The Extraordinary
Making of You”
For further information on disorders of sexual
development...
• Consult “Intersex” on Wikipedia
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