Sex Development Disorders Flashcards
In Congenital Adrenal Hyperplasia - what enzyme is deficient and what is the consequence of this?
21 - Alpha Hydroxylase
Cortisol and aldersterone are not produced. This leads to switching of the hormones made to be predominantly testosterone. In females this leads to:
- clitoris growth to penis like shape
- Labia does not open
What is the effect of 5 Alpha reductase deficiency?
Lack of Dihydrotesterone production, Males appear female until puberty when enough testosterone can be produced.
What is Vaginal Atresia?
Failed Canalisation of the vagina
If there is absence of a vagina and uterus in a female what has failed?
Failure of the Sinovaginal bulbs
these are usually stimulated by the uterus - thus if there is no uterus they will not be stimulated.
If a patient has the following karotyping of sex chromosomes, what do they have?
XXY or XXXY
and what are the consequences?
Klinefelters syndrome
Infertility
Gynaecomastia
Imparied sexual maturation
Leydig cells do not produce enough testosterone
If a male patient has a mutation of the X chromosome which causes androgen receptors not to be unregulated - what will they develop and what is the outcome?
Testicular Feminising Syndrome
Female external phenotype but internal testes.
No uterus or vagina will form since AMH is produced.
If a female presents with a karotyping of:
X0
in that she is missing a chromosome
Turners Syndrome
What is an intramuscular injection of testosterone that is given to transman?
Sustanon
What is the injection given after sustanon?
Nebido
In sexual development disorders what are the 3 main ways they can be broken down into?
Chromosomal
Gonadal
Anatomical
Cryptorchadism is consider part of which sets of pathologies, which include?
Testicular dysgenesis syndrome
- hypospadias
- infertility
- testicular cancer
Outline some tests that can be performed for women with sub-fertility
AMH levels: secreted by the eggs - as they disappear so will AMH levels
FSH/ LH levels
Ultrasound of tubes
Genetic screening
Outline some tests in men for sub-fertility:
Semen analysis - amount of sperm and functioning
Gonadotropins levels
testosterone levels
testicular decent
Urine analysis - retrograde ejaculation
previous illnesses - mumps
What is a Chordee penis?
Hooked
Define a direct inguinal hernia
Medial to the inferior epigastric artery
breaks throught the abdominal wall
