neonatal Flashcards
ambiguous genitalia
assess promptly
assess salt wasting crisis
gender assignment avoided
MDT approach - psychology, genetics, urology
Measure 17 OHP and karyotpe gonadal function FSH LH T E AMH electrolytes baseline and 48 hourly USS / MRI genetic testing adrenal stimulation testing
CAIS
communication
You have a condition called Complete Androgen Insensitivity Syndrome. This is a complicated and confusing condition to explain. I will go slowly but please stop me and ask questions at any time.
In order to develop into a male or female gender identity we require chromosomes, sex hormones, and hormone receptors. Chromosomes are the genetic building blocks that make up who we are. Male gender is typically associated with XY and female XX. In your situation your chromosomes are XY. However due to a problem with your hormone receptors your body is unable to detect the male sex hormone. Therefore you have developed as a woman. It is important to remember that this diagnosis does not change your gender identity.
However this does have implications for your future and future health:
Because you do not have normal ovaries or a womb you will not have periods and you will not be able to conceive or carry a pregnancy.
Developmentally the upper third of the vagina is absent and therefore your vagina is relatively shortened. In order to achieve pleasurable sexual intercourse you will need to undergo a combination of physiotherapy and dilator therapy in order to lengthen the vagina. Where this is not acceptable or fails surgical methods can be tried
While you do not have normal ovaries you do have gonadal structures. These are important as whilst you body is unable to detect the male hormone testosterone that they produce it is converting this to the female hormone oestrogen allowing continuing female development. However there is a small chance ~2-3% of developing cancer in these structures and therefore we would recommend that these be removed surgically following the end of puberty. We can then give you ongoing hormone replacement therapy.
I would also encourage you to have regular weight-bearing exercise and healthy diet. You will also need to have regular bone density scan to make sure that your bone mass is adequate.
I would also like to ask a social worker and psychologist to be involved, to help you and your immediate family to deal with this diagnosis. I would also like to provide you with written information regarding this condition and refer you to a local support group. You are not alone in this condition.
Finally I would like to refer you to a genetic counselling as this is an Autosomal recessive condition in a large proportion of cases. Therefore there is a chance that your sisters could be affected. I would therefore recommend that your sisters have proper counselling with subsequent testing.
Your ongoing care would ideally be in an MDT I could also refer you to a reproductive gynaecologist.
CAH
communication
Your child has a condition known as Congenital Adrenal Hyperplasia. This is a genetic condition where there is an abnormality with an organ known as the adrenal glands. The adrenal gland produces important hormones including aldosterone which is needed to maintain salt and water balance in the body, cortisol to deal with stress and sugar metabolism, androgens which are a form of male sex hormone.
Congenital adrenal hyperplasia can involve abnormalities in the production in some or all of these hormones. Most commonly we see a deficiency in cortisol and aldosterone and an excess in androgens.
This has significant health implications and your child will be managed under a MDT setting lead by a paediatric endocrinologist. The low cortisol and aldosterone place your child at risk of a life threatening condition called a “salt wasting” crisis (hyponatremia, hyperkalaemia, metabolic acidosis, shock). This can easily be prevented by treating them with a medication called hydrocortisone +/- fludrocortisone so long as it is identified in a timely manner. This treatment will need to be lifelong.
The excess male hormone is a little trickier. These levels will normalise by using the treatment as above. However as your child was exposed to high male hormone levels inside the womb it may be that there are irreversible “male like” changes to the external genital. This is only a problem if they are female and will then generally require surgical correction over the early child hood years.
Finally I would like to refer you to a geneticist as this condition can run in families (autosomal recessive)
neonatal resusitation steps
Warm dry adequate lightening
call for help - neonatal emergency
Infant placed on his or her back with the head in a
neutral or slightly extended position (the sniffing position)
If these responses are absent or weak, brisk but gentle drying with a soft warmed towel should be
used to stimulate the infant to breathe
Assess tone and WOB
If the tone is low and the heart
rate is not maintained >100/min, if the baby is not breathing positive pressure ventilation is required,
while CPAP can be used in the baby who has begun regular respiratory effort
21%oxygen
place pulse ox on - The device should be switched on and the sensor should be placed on the infant’s right hand or wrist before connecting the sensor to the cable instrument
Cardiac arrest turn oxygen up to 100% 3 compressions to one breath consider airway adjuncts IV access - can use umbilical line IV adrenaline 1:10 000 0.1 ml / kg
