PSYCH 2B03 Lecture Notes - Lecture 10: These Girls, Cortisol, Birth Weight

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Skeletal dysplasias: disproportionate limbs and trunk short limbs (achondroplasia) or short trunk (mucopolysaccharidosis; mps). Initial bloods: fbc (anaemia of chronic disease, coeliac), u/es (renal disease, electrolyte imbalance), lft, urinalysis, esr, crp (crohn), ca/phosphate/alk phos (renal and bone disorders). Calculate height velocity: if height velocity is below 25th centile over 6 months. Bone age: estimated from x-rays of the left wrist. Karyotype: chromosomal analysis to identify turner syndrome (45, x0) in short girls. Endocrine investigations: thyroid function tests (t4, tsh) and growth hormone (secretion is pulsatile so a provocation test, e. g. exercise or insulin- induced hypoglycaemia, is necessary to identify deficiency). Caused by the complete or partial absence of one of the. Increasingly detected antenatally when fetal oedema of the neck, hands or feet or cystic hygroma is detected. Short stature is universal and there are specific turner growth charts. Jwh, jm, ajs concentration: none of these are specific, but put together they make ts likely.

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