Applied Female Reproductive Physiology and the Anatomy of

the Female Genitourinary System

• From material provided by Professor Michael Chapman

• Modified February 2013

•

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

Female Menstrual Cycles

Window of Receptivity

Implantation

Changes in during cycle uterine lining

ENDOMETRIAL CYCLE

The Development of the Female

WHAT MAKES A GIRL, A GIRL?

The Development of the Female

XX vs XYChromosomal 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 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

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

• 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

For further information on disorders of sexual development...

• Consult “Intersex” on Wikipedia

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