Metabolic Disease Flashcards
Most common form of dwarfism
Achondroplasia
Common cause of achondroplasia
Sporadic mutation
Torso normal while limbs are shortened, normal mental status
Achondroplasia
Macrocephaly, frontal bossing, saddle like nose, maxillary hypoplasia and mandibular prognathism
Achondroplasia
Dwarfism caused by under secretion of growth hormone from anterior pituitary gland
Pituitary dwarfism
Short stature, normal body proportions, within normal limit of mental status
Pituitary dwarfism
Overproduction of growth hormone usually due to tumor before adolescence
Gigantism
Extreme height, enlarged facial soft tissues, enlarged hands and feet
Gigantism
Mandibular prognathism, true macrodontia, Hypercementosis
Gigantism
Excess production of growth hormone after adolescence
Acromegaly
Most common thyroid anomaly, females
Hypothyroidism
Congenital defect, iodine deficiency goiter, hashimoto thyroiditis
Hypothyroidism
Most common cause of hypothyroidism
Hashimoto thyroiditis
Most common cause of hypothyroidism
Over tx of hyperthyroidism
Puffiness of face and eyelids, non pitting edema, swelling of larynx
Hypothyroidism
Lethargic , weak, bradycardia, dry skinn, hypothermia, weight gain, cold intolerance
Hypothyroidism
Delayed eruption of teeth, retained deciduous teeth, underdeveloped mandible, enlarged tongue and thickened lips
Hypothyroidism
Hypothyroidism in adults, glycosaminoglycans deposition in skin
Myxedema
Hypothyroidism in children, mental retardation, short stature, delayed tooth eruption, mandibular dysplasia, swollen face and lips
Cretinism
Excessive production of thyroid hormones T3 & T4
Hyperthyroidism/ Thyrotoxicosis
Premature loss of deciduous teeth, premature eruption of permanent teeth
Hyperthyroidism
Autoantibodies directed towards receptors of TSH
Graves disease/ diffuse toxic goiter
60-90% hyperthyroidism caused by
Graves’ disease
Goiter, exophthalmos
Graves’ disease
Thyroid gland contains autonomously functioning thyroid nodules
Plummer’s disease/ toxic nodular goiter
Common consequence of low Parathyroid hormone
Hypocalcemia