Malattia di Graves e Deficienza di GH
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Questions and Answers

Qual è la durata raccomandata del trattamento medico per la malattia di Graves in età pediatrica?

  • 4-10 anni (correct)
  • 2-3 anni
  • 18-24 mesi (correct)
  • 6-12 mesi
  • Quale terapia non è raccomandata per i bambini sotto i 5 anni di età?

  • Terapia ormonale sostitutiva
  • Terapia radio metabolica con iodio-131 (correct)
  • Chirurgia per totale tiroidectomia
  • Terapia con farmaci antitiroidei
  • Quale delle seguenti caratteristiche indica una probabile malignità in un nodulo tiroideo?

  • Nodulo ipoecogeno (correct)
  • Margini regolari
  • Assenza di microcalcificazioni
  • Diametro < 1 cm
  • Qual è la principale conseguenza di una tiroidectomia totale?

    <p>Ipotirodismo iatrogeno</p> Signup and view all the answers

    Qual è la caratteristica di un nodulo tiroideo che suggerisce una maggiore probabilità di carcinoma?

    <p>Microcalcificazioni diffuse</p> Signup and view all the answers

    Quali sono le cause primarie di deficienza di GH?

    <p>Anomalie dysembryogeniche</p> Signup and view all the answers

    Quale delle seguenti condizioni non è un'indicazione per la somministrazione di ormone della crescita ricombinante?

    <p>Sindrome di Down</p> Signup and view all the answers

    Quali criteri non sono inclusi nella diagnosi di deficienza di GH?

    <p>Criteri genetici</p> Signup and view all the answers

    Quale delle seguenti affermazioni riguardo alla deficienza di GH è corretta?

    <p>Può essere causata da infezioni del SNC</p> Signup and view all the answers

    Qual è la percentuale di cause secondarie di deficienza di GH?

    <p>16.5%</p> Signup and view all the answers

    Quale di queste condizioni è associata all'assenza di crescita compensativa (catch-up growth)?

    <p>SGA</p> Signup and view all the answers

    Quale dei seguenti non è considerato un criterio per la valutazione della statura in caso di deficienza di GH?

    <p>Statura &gt; -3 SD</p> Signup and view all the answers

    Quale dei seguenti fattori è una causa primaria di deficienza di GH?

    <p>Anomalie cleft palate</p> Signup and view all the answers

    Quale tra i seguenti segni non è tipicamente associato all'ipotiroidismo acquisito?

    <p>Febbre</p> Signup and view all the answers

    Quale delle seguenti condizioni è una causa di ipotiroidismo acquisito?

    <p>Iodine deficiency</p> Signup and view all the answers

    In un esame di laboratorio, quali sono i risultati tipici per un ipotiroidismo primario?

    <p>TSH aumentato e FT4 diminuito o normale</p> Signup and view all the answers

    Quale di queste affermazioni sull'ipotiroidismo di Hashimoto è errata?

    <p>Non ha predisposizione familiare.</p> Signup and view all the answers

    Quale anomalie ecografica non è tipica dell'ipotiroidismo di Hashimoto?

    <p>Parenchima omogeneo</p> Signup and view all the answers

    Quale delle seguenti è considerata una manifestazione sistemica dell'ipotiroidismo acquisito?

    <p>Bradicardia</p> Signup and view all the answers

    Quale delle seguenti patologie è più frequentemente associata all'ipotiroidismo di Hashimoto?

    <p>Sindrome di Down</p> Signup and view all the answers

    Quale dei seguenti anticorpi è considerato più sensibile e specifico per la diagnosi dell'ipotiroidismo di Hashimoto?

    <p>Ab anti-TPO</p> Signup and view all the answers

    Quale delle seguenti affermazioni riguarda le cause della tiroide congenita ipotireosa?

    <p>Deficienza di iodio endemica</p> Signup and view all the answers

    Quale tra i seguenti sintomi è frequentemente associato all'ipotiroidismo congenito nei neonati?

    <p>Voce rauca</p> Signup and view all the answers

    Qual è la dose raccomandata di L-Tiroxina per un bambino di 1-3 anni?

    <p>4-6 mcg/kg/die</p> Signup and view all the answers

    Quale statistica rappresenta la forma più comune di malformazione della tiroide in caso di ipotiroidismo congenito?

    <p>Ectopia</p> Signup and view all the answers

    Quale delle seguenti affermazioni è vera riguardo il follow-up per i bambini trattati per ipotiroidismo congenito?

    <p>Le indagini devono essere fatte annualmente dopo 12 mesi</p> Signup and view all the answers

    Quali neonati devono essere sottoposti a un test di rinvio per la TSH a 2 settimane?

    <p>Neonati prematuri e gemelli</p> Signup and view all the answers

    Quale di queste affermazioni non è corretta riguardo ai segni clinici dell'ipotiroidismo congenito?

    <p>Iperattività</p> Signup and view all the answers

    Quale condizione può portare a un'errata diagnosi di ipotiroidismo congenito nei neonati?

    <p>Aumento ritardato dei livelli di TSH</p> Signup and view all the answers

    Quali di questi sintomi sono associati alla malattia di Graves? (Seleziona tutte le opzioni corrette)

    <p>Ipertensione arteriosa</p> Signup and view all the answers

    Qual è il risultato laboratoristico tipico nella malattia di Graves?

    <p>TSH diminuito</p> Signup and view all the answers

    Quale farmaco NON è raccomandato nell'età pediatrica per il trattamento della malattia di Graves?

    <p>Propiltiouracile</p> Signup and view all the answers

    Quali dei seguenti sono fattori di rischio per la malattia di Graves?

    <p>Sindrome di Down o di Turner</p> Signup and view all the answers

    Qual è la principale caratteristica istologica della tiroidite di Hashimoto?

    <p>Atrofia follicolare e fibrosi</p> Signup and view all the answers

    Che tipo di strutture si osservano nell'ecografia della tiroide in caso di malattia di Graves?

    <p>Strutture finemente inhomogenee e predominantemente iporiflettenti</p> Signup and view all the answers

    Quale condizione si verifica in seguito alla presenza di anticorpi stimolatori del recettore TSH nella tiroidite di Hashimoto?

    <p>Hashitossicosi</p> Signup and view all the answers

    Quale è l'effetto principale del metimazolo nel trattamento della malattia di Graves?

    <p>Inibisce la sintesi degli ormoni tiroidei</p> Signup and view all the answers

    Qual è uno dei segni clinici più comuni della malattia di Graves?

    <p>Oftalmopatia (esoftalmo)</p> Signup and view all the answers

    Qual è il trattamento raccomandato per l'ipotiroidismo manifesto nella tiroidite di Hashimoto?

    <p>Terapia sostitutiva con L-tiroxina</p> Signup and view all the answers

    Qual è la caratteristica principale delle palpitazioni associate alla malattia di Graves?

    <p>Battito cardiaco accelerato</p> Signup and view all the answers

    Quale delle seguenti affermazioni è vera riguardo l'ipotiroidismo subclinico?

    <p>Non ci sono segni e sintomi di ipotiroidismo</p> Signup and view all the answers

    Qual è la dose iniziale raccomandata di L-tiroxina per la terapia sostitutiva?

    <p>1-3 mcg/kg/giorno</p> Signup and view all the answers

    Quale delle seguenti affermazioni è falsa riguardo l'ipertiroidismo nei bambini?

    <p>Non richiede un trattamento immediato</p> Signup and view all the answers

    Qual è la causa principale della malattia di Graves?

    <p>Produzione di anticorpi che attivano il recettore TSH</p> Signup and view all the answers

    Quali sono i fattori di rischio anamnestici per la malattia di Graves?

    <p>Storia personale o familiare di altre malattie autoimmuni</p> Signup and view all the answers

    Study Notes

    Growth Hormone in Pediatrics: Indications and Specificities in Children

    • Short Stature Definition: Stature below -2 standard deviations (SD) compared to the general population, normalized by gender and chronological age.

    • Auxological Evaluation (Children <2 years old): Measured using length, Weight, Sitting height, Span/height, Height velocity, and Head circumference.

    • Auxological Evaluation (Children >2 years old): Measured using Height, Weight, Sitting height, Span/height, Height velocity, and Head circumference.

    • Familiar Target: Methods to estimate the expected height of a child, accounting for the parents' height to predict potential growth.

    Physiological Conditions Contributing to Short Stature

    • Familiar short stature: A condition where short stature runs in families.

    • Constitutional delay of growth and puberty: A common cause of short stature, characterized by a delay in the timing of puberty and growth.

    • Intrauterine growth retardation: A condition where a child's growth is impaired during pregnancy.

    • Systemic diseases: Various illnesses that can affect growth and development.

    • Causes of malabsorption: Conditions that impair the absorption of nutrients.

    • Genetic syndromes: Conditions associated with specific genetic mutations, that may cause short stature.

    • Congenital defects of metabolism: Congenital problems in metabolic pathways responsible for growth.

    Endocrinological Conditions Contributing to Short Stature

    • GH deficiency: A deficiency in growth hormone production.

    • Hypothyroidism: A condition with insufficient production of thyroid hormone.

    • Untreated precocious puberty: An early onset of puberty.

    • Untreated congenital adrenogenital syndromes: A condition of impaired adrenal gland function.

    First Level Assessment for Short Stature

    • Blood tests: Full blood count, tTG-reflex, TSH-reflex, general biochemistry (kidney function), urine examination, and IGF-I (particularly important in low body weight children <4 years)

    • Radiological examination: Non-dominant hand-wrist X-ray to assess bone age.

    Bone Age Reading Methods

    • Atlas of Greulich and Pyle

    • Tanner-Whitehouse II and III

    • FELS

    Assessment for Short Stature

    • Assessment can include the progression level of metaphyseal welding and the morphology of the skeleton (in order to exclude skeletal dysplasia)

    Recombinant Growth Hormone Administration

    • Indications: Demonstrated GH deficiency, Turner syndrome,, SGA without catch-up growth (Silver-Russell),, Haploinsufficiency of the SHOX gene, Prader-Willi syndrome, Chronic renal failure, Noonan syndrome.

    GH Deficiency: Etiology

    • Primary causes (83.5%): Idiopathic GH deficiency, dysembryogenic anomalies, septo-optic dysplasia, midline abnormalities, cleft palate, known genetic mutations (PROP-1, POUF-1, etc.)

    • Secondary causes (16.5%): Head trauma, neoplasms (craniopharyngiomas, dysgerminomas, Langherans cell histiocytosis), Nervous system infections, radiation, hydrocephalus.

    GH Deficiency: Physiology of Serum Levels

    • Graph displays levels over a 24-hour period, showing changes and usual patterns across different ages (7, 13, 20, and 30).

    GH Deficiency: Diagnosis

    • Auxological/Radiological Criteria: Stature ≤ -3 SD or Stature ≤-2 SD and growth rate/year <-1.0 SD for age and sex assessed for at least 6 months or a reduction in stature of 0.5 SD/yr. Additional measures based on the genetic target and growth rate are also used.

    • Biochemical Criteria: GH peak <8 ng/mL in two different stimulation tests.

    GH Deficiency: Clinical Data in the Newborn

    • Normal or subnormal height and birth weight.

    • Micropenis.

    • Hypoglycemic episodes.

    • Protracted jaundice.

    • Dysembryogenetic anomalies of the midline of the face.

    Treatment of GH Deficiency

    • rhGH treatment: Subcutaneous administration in the evening before bed, daily administration, potentially with 7/7 days, 6/7 days, or 5/7 days dosing. Compliance is a crucial factor, and treatment doses are modulated based on the statural response and IGF-1 values. Catch-up growth, maintenance during puberty, and continued into adulthood are expected outcomes.

    • Long-term Side effects: Risk of secondary cancers (bone, colon, prostate) has been observed in studies, but overall risk is minimized by careful followup observation over time and adjusting dosage based on progress.

    Thyroid Disorders in Pediatrics

    • Anatomy: The thyroid is located in the anterior median region of the neck and consists of two lateral lobes connected by a median isthmus, lying on the ventral surface of the larynx and the first two tracheal rings within the perithyroid fibrous sheath. This area has specific characteristics of follicle epithelial cells surrounded by a colloid.

    • Physiology: The hypothalamic-pituitary-thyroid axis regulates thyroid hormone levels.

    • Effects of thyroid hormones: Growth promotion, stimulation of fat and carbohydrate metabolism, increased basal metabolism, effects on the cardiovascular system, increased gastrointestinal motility, and CNS performance and muscle contraction.

    • Congenital Hypothyroidism: High incidence (1:3,000-4,000 live births), with more females affected.

      • Retesting: important in preterm infants, low birth weight (LBW) infants, very low birth weight (VLBW) infants, twins, infants of mothers with hypothyroidism, hospitalized in a paediatric intensive care unit (PICU).
      • Causes: Transient: hypothyroidal mother in pregnancy, iodine deficiency, isolated and transient TSH deficiency in offspring of mothers with Graves' disease, transient (preterm) infant hyperthyroxinemia; Permanent: thyroid dysgenesis, Endemic iodine deficiency, Defects of thyroid hormonogenesis, Central hypothyroidism (congenital TSH deficiency.)
      • Morphology: Ectopia (48%), Agenesis (31%), Hypoplasia (5%), Hyperplasia (6%), Normal (10%).
      • Clinical findings: Coarse appearance, persistence of lanugo, umbilical hernia, goiter, macroglossia, hoarse cry, prolonged jaundice, distended abdomen, floppiness, hypersomnia and difficult sucking, noisy breathing.
      • Later Clinical findings: Constipation, tendency to hypothermia, poor weight gain, poor height gain, delay in psycho-motor development, hoarse voice, bradylalia, and delayed bone age.
      • Treatment: L-thyroxine doses based on age. Follow-up of TSH and FT4 to monitor progress.
    • Acquired Hypothyroidism: Acquired after the neonatal period. Intellectual prognosis is normal.

      • Causes: Hashimoto's thyroiditis, Iodine deficiency, Subacute thyroiditis, Resistance to thyroid hormones, TSH-deficient hypothyroidism, Iatrogenic, Cystinosis.
      • Clinical findings: Reduced height velocity, weight gain, asthenia/sleepiness, constipation, cold intolerance, goiter, subcutaneous edema, bradycardia, pubertal delay/menses irregularities.
      • Lab Findings: elevated TSH, lowered FT4 (primary); Lowered TSH, with lowered FT4(central hypothyroidism)
    • Hashimoto's Thyroiditis:

      • Epidemiology: Most common autoimmune thyroid disease in children and adolescents, with females more commonly affected.
      • Causes: Organ-specific autoimmune disorder with immune-mediated destruction of the thyroid and lymph cell infiltration, resulting in follicle destruction.. Also associated familial predisposition.
      • Clinical findings: Variable clinical course, potentially with euthyroidism, hyperthyroidism, overt hypothyroidism and subclinical hypothyroidism.
      • Lab findings: FT4 and FT3 are low or normal, TSH is elevated or normal. Anti-thyroglobulin, Anti-thyroid peroxidase antibodies.
      • Thyroid ultrasound: Evidence of inhomogeneous parenchyma with hypoechoicity, hyperechoic septa (fibrosis), thickened isthmus, increased vascularization, pseudonodules.
      • Therapy: Replacement therapy with L-thyroxine.
    • Graves' Disease:

      • Epidemiology: A rare but autoimmune cause of hyperthyroidism.
      • Causes: Autoimmune etiology mainly due to antibodies activating the TSH receptor (TRAb).
      • Clinical findings: Goiter, Tachycardia, palpitations, arterial hypertension, behavior disorders, reduced school performance, ophthalmopathy(exophthalmos), tremors, increased appetite, weight loss, frequent stools.
      • Lab findings: FT3 and FT4 are elevated, TSH is typically very low. Elevated Anti-TSH receptor. Negative or positive antithyroid antibodies (e.g., anti-thyroglobulin, anti-thyroperoxidase).
      • Ultrasound: Enlarged thyroid gland with increased size, exhibiting a finely inhomogeneous, predominantly hypo-reflective structure, with blood overflow.
      • Neuro-ophthalmological visit: important, due to ocular manifestations.
      • Therapy: Methimazole, Propylthiouracil, Radio metabolic therapy, total thyroidectomy.
    • Thyroid Nodules:

      • Indications of malignancy: hypoechoic nodule, diameter >1 cm, uneven margins, diffuse "spray" microcalcifications, marked intranodal vascularization (using Doppler ultrasound), satellite lymph node lacking a typical oval shape.
      • ACR TI-RADS Classification (to assess the risk)

    Obesity in Pediatrics

    • Epidemiology: Historic changes in perceptions; obesity has become a significant health concern in industrialized countries, with prevalence increasing over the past 10-15 years. Changes in prevalence related to age, gender, geography, socio-economic status, family history of obesity, and family education.

    • Diagnostic Criteria: BMI (Body Mass Index) is the recommended parameter (weight [kg] / height²[m²]). Weight excess is measured relative to ideal weight (IW).

    • Diagnostic Criteria: BMI in children and BMI in adults.

      • Obesity is diagnosed in different ways in children and adults.
    • Etiopathogenesis: Multifactorial. Environmental factors (sedentary lifestyle, excessive nutrition) and genetic factors (40-50% contribution). Monogenic forms and Syndromic forms are also possible.

    • Environmental factors: Inadequate nutrition habits (simple sugars diet, excessive processed foods, skipping breakfast), limited physical activity in favor of TV, computer, video games, sedentary activities, educational issues (food reward, little time dedicated for children, limited opportunity for sports, parental separation).

    • Complications: Orthopedic (flat-valgus foot, valgus knee, hyperlordosis, scoliosis, femoral head epiphysiolysis), Neurologic (pseudotumor cerebri), Respiratory (dyspnea, OSAS), Gastrointestinal (fatty liver [25%], transaminase elevations [10%], cholelithiasis, hiatal hernia), Dermatologic (atrophic or rubrous striae, intertrigo, acne, eczema, acanthosis nigricans). Other potential complications in adolescents: Cardiocirculatory (metabolic risk factors associated w/ arterial HT, predictive of atheromatous diseases), Psychological aspects (increased risk of psychological or psychiatric problems, reduced self-esteem, anger).

    • Clinical Approach: The clinical approach involves a thorough history (family history of obesity, type 2 diabetes, endocrinopathies, dyslipidemia, hypertension, psychological or social history, depression, eating disorders; diet; medication history) and examinations (physical assessment with weight, height, BMI, blood pressure plicometry, and additional evaluation of various organ systems; and blood tests to evaluate lipid profile, glycemia levels, insulin, glycosylated Hb, liver profile, thyroid function and uric acid levels; and OGTT for high-risk groups.)

    • Treatment: Family approach to problem management, increasing physical activity through structured workouts, implementation of a healthy diet, and appropriate medications (GLP-1 inhibitors, metformin).

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    Description

    Questo quiz esplora aspetti cruciali della malattia di Graves e della deficienza di ormone della crescita (GH) in età pediatrica. Verranno affrontate domande riguardo al trattamento, alle indicazioni per l'ormone della crescita e alle caratteristiche dei noduli tiroidei. Testa le tue conoscenze su queste condizioni pediatriche e le loro implicazioni cliniche.

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