Pre-pubertal and congenital gynaecological disorders Flashcards
What are common intersex conditions also known as and what are the two ways they can present?
(EMERGENCY)
DSD - disorders of sexual differentiation
- congenital abnormality (CAH)
- later in life - androgen insensitivity syndrome - presents with amenorrhoea
How is DSD classified (disorders of sexual differentiation)
based upon underlying genotype
What is the most common DSD with 46XX genotype?
Congenital adrenal hyperplasia (CAH)
What can 46XY genotype cause? (2)
- AIS
2. 5-alpha reductase deficiency
What type of genetic condition is CAH?
autosommal recessive
What enzyme is most commonly deficient in CAH?
21-hydroxylase deficiency
What happens in CAH?
reduction in cortisol and aldosterone production.
ACTH levels rise - precursor steroid - prengenolone is shunted into the androgen synthesis pathway
What are the symptoms of CAH? (3)
- Salt wasting (adisonion) crisis in infants
- Virilisation of female genitalia -> ambigious
- precocious puberty in males
What investigations do you do for CAH?
imagine =
pelvic/renal/bladder US
virilsation with a female uterus makes CAH likely
What is the treatment for CAH? (2)
Gender assignment
Cortisol and aldosterone replacement therapy
What type of condition is androgen insensitivity syndrome?
X-linked recessive condition
What happens in androgen insensitivity syndrome?
due to end organ resistance to testosterone -> causes genotypically male children (46XY) to have a female phenotype.
What is the new term for testicular feminisation syndrome?
Complete androgen insensitivity syndrome
What are the symptoms for complete AIS?
appear female at birth.
present with amenorrhoea and lack of body hair.
will have undescended testes and an absent uterus.
however breast development can occur as a result of testosterone coversion to oestrodiol
What are the symptoms of partial AIS?
varying degree of genital development.
cliteromegaly - ambigious genitalia
How do you diagnose androgen insensiticity syndrome? (2)
- Buccal smear
2. Chromosomal analysis to reveal 46XY genotype
What is the management for androgen insensivity syndrome? (3)
- counselling - raise child as female
- Bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
- Oestrogen therapy
What type of condition is 5-alpha reductase deficiency?
autosomal recessive condition
What happens in the 5-alpha reductase deficiency?
inability of males to convert testosterone into DHT (responsible for external genetalia differentiation)
What is the result of 5-alpha reductase deficiency? (3)
internal male structures are formed but external are not.
may appear female or have ambigious genitalia
can undergo virilisatoin at puberty due to high levels of circulating testosterone
What is the management of 5-alpha reductase deficiency and if they are raised male or female?
gender assignemnt.
if raised male = DHT + testosterone replacement therapy
If raised female = oestrogen replacement therapy
