L13 - Abnormalities of Gonads Flashcards
1. Congenital adrenal hyperplasia (CAH) 2. Disorders of sex development 3. Describe anomalies of female genital tract, common congenital uterine anomalies and link their formation to their embryological development.
Hermaphroditism?
Organism, complete or partial reproductive organs that produce gametes normally associated with both male and female sexes.
Describe briefly the pathophysiology of puberty?
- Onset due to increase pulsatile release GnRH from hypothalamus.
- Initially occurs at night
- As puberty progresses it occurs during day and night
- Pulsatile GnRH causes gonadotropic cells of AP to release LH and FSH
- Lead to oestrogen production
- causes physical changes of puberty
What do the Mullerian ducts differentiate into? (4)
Differentiate to form:
- Fallopian tubes
- Uterus
- Uterine cervix
- Superior aspect of Vagina
When do the Mullerian ducts develop?
6th week of embryonic development.
When does the urogenital sinus form?
By 7th week
If Mullerian anomaly is identified why is it important to assess renal tract?
- Mullerian duct develops in close proximity to kidneys
Hymen
Thin membrane that covers vaginal opening.
Patients with imperforate hymen may present with…
Ultrasound may show…
- increased cyclical abdominal pain in absence of menstruation
- palpable abdominal mass
- USS —> large haematocolpos
Haematocolpos is an….
Accumulation of blood in vagina
Treatment for patient with imperforate hymen?
Incision and resection of hymen
Transverse vaginal septa may result from…
Failure of canalisation of vaginal plate where UG sinus meets the Mullerian duct.
Treatment for a transverse vaginal septa?
Surgical resection of septum can be resected vaginally, laparoscopically or via an abdomino-perineal approach
Laparoscopy is…
- Keyhole surgery.
- Surgeon can access the inside of the abdomen and pelvis without having to make large incisions in the skin.
Longitudinal vaginal septum arises due to…
types..
- failure of canalisation of vaginal plate
- can be partial or complete
Treatment for longitudinal vaginal septum
Resection vaginally.
Resection is….
Process of cutting tissue or part of organ.
Describe what symptoms a patient with an abnormal uterine shape may present with?
Usually asymptomatic
however. .. patient may have:
- menorrhagia
- primary infertility
- recurrent pregnancy loss
Examples of abnormalities of uterine shape
loads
Unicornuate uterus Bicornuate Double uterus Septate uterus Vertical septate uterus Horizontal septate uterus
Unicornuate uterus
- Only one functioning fallopian tube.
- Half size of typical uterus.
- Common type of congenital uterine abnormality.
Define disorders of sex development?
DSD
- group of conditions where development of chromosomal, gonadal or anatomical sex is atypical.
Atypical
Not representative of a group
When do primordial gonads appear?
6th week of development
What occurs during sixth week of development? (3)
- Primordial gonads appear
- Gonadal ridge can be testes or ovaries. If SRY present then testes.
- Mullerian and Wolfian ducts also develop.
Which gene in XY embryo stimulates development?
- SRY gene in embryo stimulates testicular development.
- Sex Determining region on Y chromosome.
Describe how the Wolfian structures develop?
What are the Wolfian structures?
Testes produces testosterone.
This causes the development of Wolfian structures.
- vas deferens
- seminal vesicles
- epididymus