Hormone dose must be doubled or tripled during acute illnesses injury or

Hormone dose must be doubled or tripled during acute

This preview shows page 15 - 17 out of 32 pages.

Hormone dose must be doubled or tripled during acute illnesses, injury, or surgery Girls need surgical repair of external genitalia Nursing Considerations Referral to genetics clinic may be needed Refer to child as “ your baby” instead of by gender if child has ambiguous genitalia Teach parents medications and treatment during times of physical stress Encourage use of support groups / counseling. Not knowing the gender of the child can be very distressing to some parents. o Adrenal Insufficiency: Addison’s Disease Insufficient cortisol and aldosterone production from adrenal glands Cause is usually unknown; some come from autoimmune or tumor affecting adrenal gland S&S Weakness, fatigue, dizziness Tachycardia Dark skin (tanned appearance) Black freckles; hyperpigmentation around pressure points (knees, elbows, waist) Weight loss, dehydration, loss of appetite Intense salt cravings , hunger o Low sodium levels Nausea and vomiting o Fluid loss o Decreased BP Diagnostics Low serum sodium High serum potassium Low blood sugar Low blood pressure Serum cortisol level low ACTH Stimulation Test Treatment Replace cortisol and aldosterone May be able to do oral hydrocortisone and lots of salt! May need higher doses during stressful times Disorders of Metabolism o PKU – Phenylketonuria “Inborn Error of Metabolism” Autosomal recessive Deficiency of the liver enzyme phenylalanine hydroxylase that normally breaks down the essential amino acid phenylalanine into tyrosine Leads to a buildup of phenylalanine in the blood (toxic to brain) If untreated can lead to mental retardation, seizures, and death S&S
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Mousy or musty body odor Irritability Vomiting Hypertonia Eczema-like rash Seizures Intellectual Disability Diagnosis Newborn Screening done at birth (mandatory in every state) Must be at least 48 hours old, infant must have ingested protein (breast milk or formula) Treatment Diet low in phenylalanine for life Avoid high protein foods and aspartame Limited Meat, chicken, fish, eggs, nuts, cheese, milk No aspartame (diet sodas, etc.) Females need to follow diet carefully during pregnancy to prevent any damage to fetus. Genetic Disorders o Turner’s Syndrome Chromosomal abnormality Affects females: one X chromosome (45, X) S&S Short stature (about 4’7”) Lack of secondary sexual development “Webbing” of the neck o Low hair line at the back of the head Drooping eye-lids Infertility Lymphedema Kidney and Heart Abnormalities Hypertension Obesity Diabetes Thyroid Problems Abnormal Bone Development Self-Esteem Issues Normal Intelligence (some will have learning disorders) Diagnosis Karyotype Presence of Turner’s Appearance Diagnosis often delayed until adolescence Treatment Growth hormone Estrogen replacement therapy at adolescence Psychological Support Nursing Intervention Teach how to give Growth Hormone and Estrogen Replacement Teach about age-appropriate activities
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