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Ped Endocrinology I

SLU - SOM Pediatrics Prelim Exams: THYROID

Hypothyroidism results from? 1. Deficient production from: a) gland (primary Hypothyroidism) b) reduced TSH (Secondary) 2. Defect in receptor activity
Cause of CONGENITAL HYPOTHYROIDISM? >Thyroid Dysgenesis - 85% > Inborn errors of Thyroxine Synthesis - 10% >Transplacental maternal thyrotropine - receptor blocking antibody - 5%
Familial Congenital Hypothyroidism is caused by? Inborn Errors of thyroid hormone synthesis
Appearance of manifestations of SEVERE Congenital Hypothyroidism Appears? Less Severe? Early manifestations - SEVERE Late Manifestations - Less Severe
Epidemiology: a) Race b) gender a) Hispanic and Native Americans > Blacks b) F>M (2:1)
Clinical manifestations: > Large anterior and posterior fontanels - first clues secondary to myxedema of the brain > Prolonged Physiologic Jaundice - >2 weeks, may be the earliest signs > 1st month: feeding difficulties, choking spells, lac of interest, sluggish, somnolence
Anemia associated with congenital hypothyroidism Macrocytic anemia - intractable to treatment
Most common Manifestation/s for Congenital Hypothyroidism? Cardiac Anomalies
If untreated or undetected (more than 1 month) > Retardation of mental and physical development > Stunted growth, HC normal or increased > Fontanels- opened > Dry skin > Fat deposition above clavicles
Diseases Detected by Newborn Screening? > Phenylketonuria > G6PD > Congenital Adrenal Hyperplasia > Congenital Hypothyroidism > Galactosemia
Diagnostics for Congenital Hypothyroidism? > Newborn Screening > (American) T4 determination --> TSH if T4 is low > (European and Japanese) TSH measurement - detects primary hypo and subclinical hypo
Thyroid hormones Profile for Congenital Hypothyroidism? T4 - LOW T3 - NORMAL TSH - HIGH Serum THYROGLOBULIN - LOW ** Serum Prolactin - High
Radiologic Findings CHypoThy >Distal Femoral Epiphysis is ABSENT (epiphyseal dysgenesis) . BEAKING Deformity - T12, L1, L2
ECG findings for CHypoThy Low voltage P and T waves Diminished Amplitude of QRS
Treatment for CHypoThy ORAL LEVOTHYROXINE - 10-25 mcg/kg
Monitoring after treatment T4 and TSH monthly for the first 6 months, then every 2-3 months until 2 y/o
How many points in the IQ is reduced? 5-20 points
Neuropsychological Sequelae of congenital Hypothyroidism? > Incoordination > hypotonia/ hypertonia > Short attention span > Speech Problems > neurosensory hearing defects
ACQUIRED HYPOTHYROIDISM Epidemiology > more common that Congenital > F>M (2:1)
Cause of Acquired Hypothyroidism Chronic Lymphocytic Thyroiditis (Hashimoto's Thyroiditis)
Other causes of Hypothyroiditis (acquired) - Autoimmune: Pernicious Anemia, Klinefelter, Down's - Irradiation - Meds: AMIODARONE - liver hemangioma - inc. type III deiodinase
Manifestations: - decelerated growth - 1st clinical sign - Goiter - Enlarged gland, non-tender, firm, rubbery consistency - hypothyroidism s/sx - precocious puberty - inc. TSH
What is Goiter? Enlarged thyroid gland
T/F: Goiter is caused by increased thyroid hormone secretion? FALSE. Increased PITUITARY SECRETION (TSH) can be Euthyroid, Hypothyroid, Hypothyroid, Congenital or acquired , endemic or sporadic
Congenital Goiter is caused by? > Fetal thyroxine Synthetic defect > Administration of Anithyroid drugs during pregnancy
Radiologic findings? Anterior deviation of the Trachea
Acquired Goiter is caused by? > Lyphocytic Thyroiditis (Hashimoto) > Iodine Ingestion > Drugs
Thyroid picture of Acquired Goiter? Euthyroid or Hypothyroid
Other name for ENDEMIC GOITER? Cretinism
Cause of Cretinism IODINE DEFICIENCY
Clinical Manifestations > Mild - no noticeable neck mass > Moderate - evident neck mass and may disappear with maturity may reappear during pregnancy > Severe - large neck mass
Types of Endemic Cretinism? 1. Neurologic Type - Zaire 2. Myxedematous Type - Papua New Guinea
Manifestations of Neurologic Type? > MR > Deaf mutism > gait and standing disturbances > normal pubertal development
Pyramidal Signs of Neurologic type? > Babinski > hyperreflexia > ankle clonus
Thyroid Picture of Neurologic type? EUTHYROID
Manifestations of Myxedematous type? > MR > deaf with neurologic symptoms > delayed growth and sexual development > absent goiter on UTZ
Thyroid picture? T4 LOW; TSH marked elevation
Pathogenesis of Neurologic type? Direct effects of maternal and fetal iodine deficiency (hypothyroxinemia)
Pathogenesis of Myxedematous type? >Selenium Deficiency > auto-antibodies/ autoimmune
Treatment for Cretinism? IODINATED POPPY SEED OIL to women - prevents iodine deficiency in future pregnancies for 5 years
HYPERTHYROIDISM excessive secretion of Thyroid Hormones
Cause of GRAVE'S DISEASE? production of thyroid stimulating immunoglobulin
Peak incidence? 11-15 y/o
Gender ratio? F>M (5:1)
Earliest manifestation of Grave's? Emotional Disturbances with motor hyperactivity
Description of Exophthalmos > lagging upper eyelid > impaired convergence >
An acute condition that is manifested by hyperthermia, severe tachardia, rapid progression of coma, and is precipitated by stressful conditions. Hx: Hyperthyroidism Thyroid crisis/Thyroid Storm
diagnostics for Thyroid storm? > inc Serum T4, Free T4 and T3 > low TSH > (+) antithyroid antibodies and thyroid peroxidase antibodies > (+) thyrotropin stimulating antibodies
Treatment for Thyroid storm? > Anti-thyroid: PTU > Hydrocortisone > Propanolol > Supportive mngt. (treat underlying cause)
conditions for radioiodine treatment of surgery? > cooperation for medical management is not possible > trial of meds has failed > side effects preclude futher use of antithyroid meds
Ocular manifestations of Grave's Disease? Pain, Lid erythema, Chemosis, decrease EOM function, Decreased Visual Acuity
Papillary Carcinoma - RET rearrangements - Familial; Autosomal Dominant
Anaplastic Thyroid Carcinoma - p53 point mutations
Procedure that causes Thyroid carcinomas? Radiation Therapy
Amount of Grey that causes a 7.7 relative risk 1 Gy
Most Common Histologic type of Thyroid Ca Papillary/Follicular
Most fatal Histologic type? Anaplastic
MC site of mets Lungs
Gold standard for diagnosis FNAB
Determines Solidity of the tumor Ultrasound
Determines radionucleid uptake Thyroid Scan
Radioisotopes used for DIAGNOSIS Iodine - 123 99m Technetium pertechnetate
cold nodules most are BENIGN
Hot Nodules Malignant
Treatment for tumors <1 cm subtotal thyroidectomy followed by suppressive doses of thyroid hormone
Small but multicentric tumors Total Thyroidectomy
Tumors >1 cm Total thyroidectomy with LN excision
Radioisotopes used for TREATMENT Iodine - 131 (30-100 mCi)
Drugs given after Surgery? Na L - thyroxine
Created by: jordi_mariano