of mental retardation (delayed smiling, recognition of mother) Delayed sexual development Coarse features of head and neck including low hair line, wrinkled forehead, swollen eyelids, depressed nasal bridge, thick protruded tongue, delayed dentition, short neck Skin may be yellow (hypercarotinemia) are short, hands and feet are short and broad Management: Thyroid hormone replacement therapy (L-thyroxine) that must as soon as possible to prevent any neurological complications (so even at birth when they discover the screening test to be positive) Treatment should begin BEFORE all the above mentioned S&S (basically at newborn screening you start!) Monitor height (every 3 months), bone age (yearly), mental development using IQ, puberty, thyroid function (TSH, T4) Hashimoto’s thyroiditis (autoimmune thyroiditis, chronic lymphocytic thyroiditis) Most common cause of acquired hypothyroidism > boys Clinical features: Can be asymptomatic Hashitoxicosis (transient symptoms of hyperthyroidism due to destruction of follicles) Goiter (FIRM AND PEBBLY) Hypothyroidism symptoms (above) Diagnosis: Neonatal screening (TSH) Increased TSH = first sign of thyroid failure, then check T4 (if low = clinical hypothyroidism, if not, subclinical hypothyroidism) Serology for anti-thyroid antibodies (especially Ab) Hyperthyroidism (Grave’s) Thyroid receptor (TSH receptor) stimulating antibodies (TSI) Methimazole (ADR = agranulocytosis) and beta blockers are used Patient should be brought to the hospital if they are febrile Disorders of Puberty general – Female puberty Onset = 7 13 years – Therlarche (breast buds) usually occurs first Adrenarche (pubic, axillary hair) is also one of the earliest signs
of mental retardation (delayed smiling, recognition of mother) Delayed sexual development Coarse features of head and neck including low hair line, wrinkled forehead, swollen eyelids, depressed nasal bridge, thick protruded tongue, delayed dentition, short neck Skin may be yellow (hypercarotinemia) are short, hands and feet are short and broad Management: Thyroid hormone replacement therapy (L-thyroxine) that must as soon as possible to prevent any neurological complications (so even at birth when they discover the screening test to be positive) Treatment should begin BEFORE all the above mentioned S&S (basically at newborn screening you start!) Monitor height (every 3 months), bone age (yearly), mental development using IQ, puberty, thyroid function (TSH, T4) Hashimoto’s thyroiditis (autoimmune thyroiditis, chronic lymphocytic thyroiditis) Most common cause of acquired hypothyroidism > boys Clinical features: Can be asymptomatic Hashitoxicosis (transient symptoms of hyperthyroidism due to destruction of follicles) Goiter (FIRM AND PEBBLY) Hypothyroidism symptoms (above) Diagnosis: Neonatal screening (TSH) Increased TSH = first sign of thyroid failure, then check T4 (if low = clinical hypothyroidism, if not, subclinical hypothyroidism) Serology for anti-thyroid antibodies (especially Ab) Hyperthyroidism (Grave’s) Thyroid receptor (TSH receptor) stimulating antibodies (TSI) Methimazole (ADR = agranulocytosis) and beta blockers are used Patient should be brought to the hospital if they are febrile Disorders of Puberty – general Female puberty Onset = 7 – 13 years Therlarche (breast buds) usually occurs first Adrenarche (pubic, axillary hair) is also one of the earliest signs
ENDOCRINOLOGY+RENAL+NEUROLOGY+ONCOLOGY+and+whatever+is+left.docx