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Congenital Malformations of Other Endocrine Glands

Anomalies of Other Endocrine Glands


Presentation

  • الصفحة 468 - Role of aberrant HLA-DR expression and antigen presentation in induction of endocrine autoimmunity. Lancet 1983; 2: 1115-19. ‏ الصفحة 401 - F, et al.[books.google.com]
  • Goiter may be present. T4 is low and TSH is elevated.[slideshare.net]
  • Adrenal ectopic thyroid could present with hypertension, 25 while that in the gallbladder may present with right upper quadrant abdominal pain. 20 Presentation with features of hypothyroidism occurs mainly in children.[hormones.gr]
  • It is also frequently present in newborns with Down syndrome.[elsevier.es]
  • Congenital hypothyroidism (CH) can be defined as a lack of thyroid hormones present from birth. If it is not detected and treated early it is associated with irreversible neurological problems and poor growth.[patient.info]
Falling
  • The first was held in La Malbaie in Quebec in the fall of 1979. That meeting was well organized and highly productive. Its proceedings constitute a bible in the field.[books.google.de]
  • Soy falls into a category of foods known as goitrogens —foods and supplements that prevent proper thyroid hormone production and cause the thyroid gland to enlarge.[verywell.com]
  • Osteoporosis raises the risk of bone fractures, making falling much more dangerous.[diabetesselfmanagement.com]
  • Falls Church, VA: American Thyroid Association. Haggerty, M. (2006). Hypothyroidism. The Gale Encyclopedia of Medicine. Third Edition. Jacqueline L. Longe, Editor. Farmington Mills, MI.: Thompson Gale. O’Toole, M.T. (Ed.) (2013). Hypothyroidism.[southerncross.co.nz]

Workup

  • […] lateral radiograph of the knee may be obtained to look for the distal femoral epiphysis; this ossification center appears at about 36 weeks' gestation, and its absence in a term or postterm infant indicates prenatal effects of hypothyroidism. [16] See Workup[emedicine.medscape.com]

Treatment

  • Preliminary IQ and neurological data have indicated that screening and early treatment do, in fact, prevent mental retardation.[books.google.de]
  • Treatment Levothyroxine (LT4) is the treatment of choice for CH. The objective is to attain a neurological development and growth corresponding to the genetic potential of the child.[elsevier.es]
  • If this disorder is untreated, studies show a loss of IQ proportionate to the age at which treatment is started: if treatment is started at 0 to 3 months of age, mean IQ is 89 (range: 64–107); if treatment is started at 3 to 6 months of age, mean IQ is[wvdhhr.org]

Prognosis

  • Prognosis The prognosis is excellent if timely treated. Most of the children achieve normal physical and mental growth. Regular follow-ups and blood thyroid hormone measurements are needed for optimum management.[lecturio.com]
  • Absence of the distal femoral ossification nucleus (“empty knee” sign) or a diameter The usefulness of the etiological diagnosis lies in the prognosis.[elsevier.es]
  • Prognosis If CH is detected early in infants and treatment begun, normal development of mental function can occur. [ 11 ] If treatment is delayed, spasticity, gait problems and dysarthria and profound mental disability may result.[patient.info]
  • Layout of presentation Thyroid physiology Incidence Classification Causes Diagnosis & screening Follow up of screening Treatment & monitoring Prognosis 4.[slideshare.net]
  • Prognosis [ edit ] Most children born with congenital hypothyroidism and correctly treated with thyroxine grow and develop normally in all respects.[en.wikipedia.org]

Etiology

  • Absence of the distal femoral ossification nucleus (“empty knee” sign) or a diameter The usefulness of the etiological diagnosis lies in the prognosis.[elsevier.es]
  • The association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and transient CH were studied in CH patients.[ingentaconnect.com]
  • The etiology of TD, which is the most common cause of CH, is largely unknown.[dovepress.com]
  • Hypothyroidism, usually of autoimmune etiology and only occasionally of nonautoimmune etiology, has been reported to be associated with dRTA.[thetrp.net]
  • Results: Although we could not entirely ignore the possible role of environmental and autoimmune factors in the development and function of thyroid gland, our findings strongly suggest the role of genetic factors as dominant etiologic factor in CH.[advbiores.net]

Epidemiology

  • "The Epidemiology of Thyroid Disease". British Medical Bulletin. vol. 99. 2011. pp. 39-51.[clinicaladvisor.com]
  • "Epidemiology of congenital hypothyroidism". Experimental and Clinical Endocrinology & Diabetes. 105 Suppl 4: 19–23. doi : 10.1055/s-0029-1211926. PMID 9439909. Harris, KB; Pass, KA (July 2007).[en.wikipedia.org]
  • Epidemiology In the UK, 1 in 4,000 live births have CH. The incidence is twice as common in girls. [ 1 ] Areas with iodine deficiency associated with endemic CH are Bangladesh, China, Peru and Zaire.[patient.info]
  • These inborn errors may include: Lack of iodide uptake Abnormalities in TSH receptors Defects in thyroglobulin Deiodinase defect Defects in thyroid peroxidase Epidemiology of Congenital Hypothyroidism In the United States, it is estimated that the annual[lecturio.com]
  • However, studies have reported a change in the epidemiology, with a doubling in incidence to around 1 in 1500 live newborns. [1, 2] This is thought to be due in part to an increase in congenital hypothyroidism with thyroid gland-in-situ (GIS). [3] Lower[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Etiology and Pathophysiology of Congenital Hypothyroidism Anatomic defects of the thyroid gland The thyroid gland develops from the fourth branchial pouch in the buccopharyngeal cavity during fourth to the tenth week of gestation.[lecturio.com]
  • Pathophysiology The most common cause is some form of thyroid dysgenesis: aplasia, hypoplasia, or an ectopic gland; thyroid ectopy accounts for two thirds of thyroid dysgenesis.[wvdhhr.org]
  • Pharmacotherapy: A Pathophysiologic Approach. 7th ed. New York, NY: McGraw-Hill Medical; 2008:1254-1256. 3. AACE Thyroid Task Force.[uspharmacist.com]
  • Pathophysiology Autoimmune thyroid disease can be caused by multiple autoantibodies. All thyroid antibodies can be seen in all forms of autoimmune thyroid disease, in varying degrees of specificity.[clinicaladvisor.com]
  • .: Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J. Clin. Endocr. Metab. 87: 4072-4077, 2002. 33. Rosenberg, T.; Gilboa, Y.: Familial thyroid ectopy and hemiagenesis. Arch.[genome.jp]

Prevention

  • The main objective was the prevention of mental retardation due to thyroid hormone deficiency during the early months of life.[books.google.de]
  • Soy falls into a category of foods known as goitrogens —foods and supplements that prevent proper thyroid hormone production and cause the thyroid gland to enlarge.[verywell.com]
  • Almost all babies in New Zealand are screened, and early detection can prevent severe disability and death. Approximately 45 babies a year are identified through screening with one of the conditions.[nsu.govt.nz]
  • If tests are positive, they can take measures to prevent the disease from progressing.[medicalnewstoday.com]

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