ENDOCRINE AND METABOLIC DIORDERS ANNA KOSMOWSKA

Try to determine a disorder

CRETINISM

30-YEAR OLD BRASILIAN WOMEN LOOKS LIKE 9-MONTH BABY Experts from the Faculty of Medicine at the University of Ceara believe that what Maria suffers from is a severe deficiency of the thyroid hormone. As a result of hypothyroidism, her body was never able to develop physically or mentally. They also went on to say that if the case had been identified early on, Maria may have grown up as a normal child. Read more http://prafulla.net/graphics/amazing/30-year-old-brazilian-woman-looks-like-a-9-month-baby/

TURNER SYNDROME LYMPHATIC EDEMA

CAUSES OF EXCESSIVE GROWTH OR TALL STATURE-FAMILIAL-OBESITY-TRUE GIGANTISM (excess GH secretion)-Marfan Syndrome-Klinefelter Syndrome-Sotos Syndrome

Sotos syndrome (cerebral gigantism) is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by autism,[1] mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disportionately large and long head with a slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported.

DOWN SYNDROME 1 Signs and symptoms1.1 Mental characteristics and neurology1.2 Congenital heart disease1.3 Cancer1.4 Thyroid disorders1.5 Gastrointestinal1.6 Infertility1.7 Eye disorders1.8 Hearing disorders

DIABETES MELLITUS NUMBER OF CHILDREN DEVELOPING DM IS INCREASINGALMOST ALL CHILDREN HAVE TYPE 1 = INSULIN-DEPENDET DIABETES

CLASSIFICATION OF DIABETES TYPE 1 MOST CHILDHOOD DIABETES- destruction of pancreatic beta-cells by an autoimmune processTYPE 2 INSULIN RESISTANCE followed later by beta-cell failure- usually older children-obesity-related-not as prone to ketosis-commoner in some ethnic groups e.g Indian

TYPE 3. OTHER SPECIFIC TYPES MODY = maturity-onset diabetes of the youngeInfections e.g congenital rubellaDrugs e.g corticosteroidsCyctis fibrosisCushing syndromeGenetic/chromosomal syndromes e.g Down and TurnerNeonatal diabetesTYPE 4. GESTATIONAL DIABETES GDM

SYMPTOMS AND SIGNS OF DIABETES There are two peaks of presentation od DM1 preschool and teenagersSymptoms and signs of diabetesmost common – the classical triad-polydipsia-polyuria-weight lossless common-enuresis-skin sepsis-candida and other infections

LATE – DIABETIC KETOACIDOSIS Smell of acetone on brethVomitingDehydrationAbdominal painKussmaul breathingHypovolaemic shockDrowsinessComa and death

Educational programme is needed for the parents and childBasic understanding of the pathophysiology of diabetesInjection of insulineDietSick-day rules during illness to prevent ketoacidosisBlood glucose monitoringTreatment of hypoglycaemia

INJECTION SITES

INSULIN Human insulin analoguesrapid-acting insulin analogues – Humalog, NovoRapidVery long- acting insulin analogues – LantusShort-acting – Actrapid, Humulin S

HYPOGLYCAEMIA Common problem in neonatesDef. Plasma glucose <2.6mmol/LClinical features include – sweating, pallor, headache, seizures, coma

CLINICAL FEATURES OF HYPOTHYROIDISM CONGENITAL – usually asymptomatic and picked up on screening, otherwise – failure to thrive, feeding problems, prolonged jaundice, constipation, pale , cold mottled dry skin, coarse facies, large tongue, hoarse cry, goitre, umbilical hernia, delayed development

HYPOTHYROIDISM - ACQUIRED Females > malesShort stature/growth failureCold intoleranceDry skinCold peripheriesBradycardiaThin, dry hairPale, puffy eyes with loss of eyebrowsGoitreSlow-relaxing reflexConstipationDelayed pubertyObesitySlipped upper femoral epiphysisDeterioration in school workLearning difficulties

PhenyloketonuriaCFHypothyroidism