Congenital Adrenal HyperplasiaRenata O, Steyn F, Nathaly M, Aileen j
What the disease is Congenital adrenal hyperplasia is a defect in the adrenal glands when they lack enzyme. Two types of CAH 1. Classic also has two forms: salt wasting (severe) & non-salt wasting (mild). 2. Non-classic
Classic CAH1. Salt wasting: body has trouble keeping the right amount of salt. Causes weight loss & dehydration in the first week of life for newborns.2. Non-salt wasting: levels of cortisol are reduced, no salt wasting. Causes ambiguous genitalia in female babies and virilization in both sexes before puberty.
Non-classic CAH Neither cortisol nor aldosterone is reduced No salt wasting Newborn girls usually have no abiguity
The target Both males and females are an easy target This disease affects 10,000-15,000 newborns every year Severe form affects mainly European Caucasians Mild form affects Ashkenazi-Jews
Areas of infection Affect the adrenal glands mainly Also affects the reproductive system of both sexes
Causes Lack of enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone. Cortisol: a steroid hormone of the adrenal cortexAldosterone: hormone produced by the cortex of the adrenal gland
Female Symptoms Abnormal menstrual cycles Deep voice Early appearance of pubic & armpit hair Ambiguous genitalia (genitals that look both male and female)(picture maybe)
Male Symptoms Early appearance of pubic & armpit hair Enlarged penis Small testes Early development of male characteristics (e.g. deep voice, facial hair, etc.) (picture maybe)
Exams and Tests Salt levels and urine tests X-ray for bone age High levels of serum DHEA sulfate Dehydroepiandrosterone(DHEA)-sulfate- a weak male hormone produced in the adrenal glands in both males & females. Genetic test also help diagnose, confirm, & manage the disease.
Treatments Treated with hormone replacement; generally replaced with cortef and florinef. Take a form of cortisol daily (e.g. dexamethasone, fludrocortisone, or hydrocortisone)
Citation (idk if the way it’s cited is correct) The hormone foundation’s Patient Guide to Congenital Adrenal Hyperplasia. (n.d.). http://www.hormone.org/resources/up-adrenal- hyperplasia-patient-guide-083110-2.pdf Congenital Adrenal Hyperplasia-PubMed Health. National Center for biotechnology Information. http://ncbi.nlm.nih.gov/pubmed/health/ Congenital Adrenal Hyperplasia Medicine plus Medical Encyclopedia. National library of medicine-national institutes of health. http://nlm.nih.gov/medicineplus/encyla http://www.congenitaladrenalhyperplasia.org/