3: Pre-pubertal and congenital gynaecological disorders Flashcards
What is the inheritance pattern of CAH
Autosomal recessive
What are the three types of CAH
- 21b-OH
- 17a-OH
- 11b-OH
What parts of adrenal cortex produces aldosterone
Zonal glomerulosa
What part of the adrenal cortex produces glucocorticoids
Zona fasiculata
What part of adrenal cortex produces androgens
Zona reticularis
What hormones does 21b-OH deficiency decrease production of
Glucocorticoids
Mineralocorticoids
What does decrease in glucocorticoids result in
Decrease in glucocorticoids. removes negative feedback. Therefore increases ACTH and pre-cursors
What happens in 21b-OH
Deficiency in enzyme 21-OH causes absence glucocorticoid and mineralocorticoid. This causes shift of precursors to zona reitcularis and increase production androgens
What symptoms does extra androgens cause
virillisation
precocious puberty
What does absence glucocorticoids cause
hypoglycaemia
What does absence of mineralocorticoids cause
hyponatraemia
hyperkalaemia
what happens in 11b-OH
Deficiency in 11b-hydroxylase means unable to produce glucocorticoids and mineralocorticoids. However, there is build up of 11-deoxycortisone which can act at aldosterone receptors to maintain HTN
Explain 17-OH
Deficiency in 17-OH means unable to produce androgens or glucocorticoids. Pre-cursors are shunted into zone fasiculata causing production mineralocorticoids which lead to HTN.
What are predominant symptoms for 21b-OH
Hypotension
Hypoglycaemia
Virilisation, precocious puberty
What are predominant symptoms for 11b-OH
HTN
Hypoglycaemia
Virilisation, precocious puberty
What are predominant symptoms for 17a-OH
Hypoglycaemia
HTN
Delayed puberty
In females, how may 21b and 11b-OH present
Pseudohermaphroditeism
Clitaromegaly
Virillisation
Preoccocioys puberty
what is used to replace cortisone in all congenital adrenal hypoplasia
glucocorticoids
what is used to replace aldosterone in 21b-OH
fludrocortisone
what is used to prevent HTN in 11b-OH and 17a-OH
spironolactone
What is used to treat lack of androgens in 17a-OH
oestrogen
What is the chromosomal defect in Klinefelter syndrome
XXXY
When do symptoms of Klinefelter’s syndrome manifest
Symptoms do not present during childhood, but manifest during puberty
What are symptoms of klinefelters disease
Manifest at puberty:
- Testicular genesis
- Azoospermia
- Eunoid prevention ( tall, slim, thin fingers)
- Gynaecomastia
- Osteoporosis
- Mitral valve prolapse
What cardiac condition is associated with klinfelter syndrome
Mitral valve prolapse
How is Klinefelter managed
Testosterone
What does Klinefelter syndrome cause
Testicular genesis
What is the chromosomal abnormalities in turner’s syndrome
45X0
What does turner’s syndrome cause
Ovarian dysgenesis
How will Turner’s syndrome present in neonate period and why
Lymphedema = due to immature maturation of lymphatic system
What are symptoms of tuner’s syndrome
- Short-stature
- Webbed neck
- Short 4th metacarpal
- Shield chest
- High-arch palate
- Gonadal dysgenesis - streaky ovaries
- Primary amenorrhoea
- Infetiity
What type of ovaries are present in turner’s syndrome
Streak ovaries
What is turner’s syndrome a type of
Hypogonadotrophic hypogonadism
How is turner’s syndrome managed
Oestrogen
What is the inheritance pattern of androgen insensitivity syndrome
X-linked recessive
If a person has complete androgen sensitivity what phenotype will they be
Female
What genitalia will someone with complete androgen insensitivity have
Blind-end vaginal pouch
What are symptoms of androgen insensitivity
Infertility
Primary amenorrhoea
What genitalia will someone with partial androgen insensitivity have
Male
How may neonates with partial androgen insensitivity present
Undescended testes
What genitalia is present in androgen insensitivity
vagina and testes, no uterus
Explain hormonal changes in androgen insensitivity
high LH, testosterone and oestrogen
What is the inheritance pattern of 5a reductase deficiency
Autosoma recessive
What does a deficiency in 5a reductase mean
That males can not covert testosterone to more potent form dihydrotestosterone
How will males with 5a reductase deficiency present
- Ambiguous genitalia
- At puberty will develop male genitalia
What is the phenotype of female pesudohemaophroditism
Male
Explain female pseudohemaophroditism
Despite ovaries, external genitlalia is virillised
What can cause female pseudohemaophroditism
Secondary CAH
What is pesudohemaphroditism
Primary sexual characteristics of one gender. Secondary sexual characteristics of another
Explain gender alignment in ambiguous genitlia
Parent’s can delay decision until decide how to rear child. This should provide best opportunity for normal puberty and sex-life when older
When is surgery for ambiguous genitalia usually delayed until
Adolescence
What act regulates gender
Gender recognition act (2004)
What does gender regulation act (2004) enable
Individual with gender dysphoria to change their legal gender
What is gender recognition certificate (GRC)
document shows a person has satisfied criteria for legal recognition of gender
What is gender dysphoria
Individual feels disparity between gender identity and sex at birth
Explain gender development at birth
- Female is default phenotype
- In males Y chromosome has SRY gene, this causes testes to develop which produce AMH causing mullein (paramesonephric duct) to regress
