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Hormone dose must be doubled or tripled during acute illnesses, injury, or surgeryGirls need surgical repair of external genitalia Nursing ConsiderationsReferral to genetics clinic may be neededRefer to child as “your baby” instead of by genderif child has ambiguous genitalia Teach parents medications and treatment during times of physical stressEncourage use of support groups/ counseling. Not knowing the gender of the child can be very distressing to some parents.oAdrenal Insufficiency: Addison’s DiseaseInsufficient cortisol and aldosterone production from adrenal glandsCause is usually unknown; some come from autoimmune or tumor affecting adrenal glandS&SWeakness, fatigue, dizzinessTachycardiaDark skin (tanned appearance)Black freckles; hyperpigmentation around pressure points (knees, elbows, waist)Weight loss, dehydration, loss of appetiteIntense salt cravings, hungeroLow sodium levelsNausea and vomitingoFluid lossoDecreased BPDiagnosticsLow serum sodiumHigh serum potassiumLow blood sugarLow blood pressureSerum cortisol level lowACTH Stimulation TestTreatmentReplace cortisol and aldosterone May be able to do oral hydrocortisone and lots of salt!May need higher doses during stressful timesDisorders of MetabolismoPKU – Phenylketonuria“Inborn Error of Metabolism”Autosomal recessive Deficiency of the liver enzyme phenylalanine hydroxylase that normally breaks down the essential amino acid phenylalanine into tyrosineLeads to a buildup of phenylalanine in the blood (toxic to brain)If untreated can lead to mental retardation, seizures, and death S&S
Mousy or musty body odorIrritability VomitingHypertoniaEczema-like rashSeizuresIntellectual DisabilityDiagnosisNewborn Screening done at birth (mandatory in every state) Must be at least 48 hours old, infant must have ingested protein (breast milk or formula) TreatmentDiet low in phenylalanine for lifeAvoid high protein foods and aspartameLimited Meat, chicken, fish, eggs, nuts, cheese, milkNo aspartame (diet sodas, etc.)Females need to follow diet carefully during pregnancy to prevent any damage to fetus.Genetic DisordersoTurner’s SyndromeChromosomal abnormality Affects females: one Xchromosome (45, X)S&SShort stature (about 4’7”)Lack of secondary sexual development“Webbing” of the neckoLow hair line at the back of the headDrooping eye-lidsInfertilityLymphedemaKidney and Heart AbnormalitiesHypertensionObesityDiabetesThyroid ProblemsAbnormal Bone DevelopmentSelf-Esteem IssuesNormal Intelligence (some will have learning disorders)DiagnosisKaryotypePresence of Turner’s AppearanceDiagnosis often delayed until adolescenceTreatmentGrowth hormoneEstrogen replacement therapy at adolescencePsychological SupportNursing InterventionTeach how to give Growth Hormone and Estrogen ReplacementTeach about age-appropriate activities