Is It a Boy or a Girl

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Is It a Boy or a Girl? • This question, together with “Is he / she OK? ” were the two first questions asked in the delivery room by the parents in the preultasonic tests, and sometimes still are • Usually it is quite easy to answer the first question, but as we’ve learned in this course the second one might not be so easy to answer

But What if?

New-Born Screening Congenital Adrenal Hyperplasia CAH

ACTH (Adreno. Cortico. Tropic Hormone) secreted from the pituitary gland affects the adrenal gland to synthesize the hormone Cortisol, a glucocorticoid which functions as a stress hormone. Aldosterone, which is important to the salt-water balance, is also synthesized in the cortex under the regulation of Angiotensin and Renin

Screening In Israel • Started in 2008 • Each year 10 neonatal are diagnosed with CAH, 50% are boys and 50% are girls • Before the screening only one boy has been diagnosed to every 3 girls. Those undiagnosed boys were rushed to the hospital in serious conditions and some suffered crib death • All the girls diagnosed were identified at birth due to the virilization

Screening In Israel • The screening is aimed for 21 OH def, and it cut-off is such that no NCCAH are identified • 17/19 cases were SW CAH, and 2 SV prevalence: Jews -1: 37, 500 Arabs - 1: 8000

My Son / Daughter has CAH, What Now? • Find support, “google” for CAH support group • Go see the doctor, your child will need to be monitored by pediatric endocrinologist • A treatment plan is needed to be established, it is usually done by a team of doctors including pediatric endocrinologist, neonatologist, urologist, and social worker and/or child psychiatrist • Find information, “google” CAH • Ask for a page with stress orders and your endocrinologist number • Think of the future, what to say when he or she will start asking questions

My Son / Daughter has CAH, What Now? • Your child is different, it is a fact, but this cannot control his life, remember this and act accordantly • Never let your child feel he is less than everyone else • CAH child can do anything

From The Field • Learn the subject carefully before advising the parents, disinformation is very hard for the family • Parents of CAH children identified recently talked about the fact that the doctors treated them didn’t know about the syndrome – be more aware to the syndrome • Be sensitive to the situation, this situation is very emotional and since not many people are aware to it, its very hard to understand imagine the future

From The Field • Try to meet families with CAH children to learn about the situation so you can give accurate information • Try to find families that will be willing to meet the new parents and help them understand, it is different for each family but it is very helpful to know they are not alone • Sit with the parents and maybe also with a psychologist and discuss what to say to the surrounding

From The Field • Parents have numerous questions. They need an empathic caregiver, who is able to listen and reply properly • Parents that are known carriers that do genetic test and have a sick child should see an endocrine before the birth and to inform the hospital about the situation • Parents of NCCAH are as much confused as CCAH parents • Parents of NCCAH children may blame themselves for not realizing the situation earlier, hence delaying medical advice

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