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  • Key words Gonadal dysgenesis  (1)
  • Neonatal  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 614-616 
    ISSN: 1432-1076
    Keywords: Key words Congenital hypothyroidism ; Neonatal ; screening ; Thyroid stimulating hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A pilot study was performed to determine the incidence of congenital hypothyroidism (CH) in Turkey and to build a model for nationwide screening. From December 1991 to December 1992, 30097 newborns were screened for CH using a primary measurement of thyroid stimulating hormone in capillary blood on days 3–5 of life. Samples were obtained in collaboration with the ongoing nationwide phenylketonuria screening programme. Eleven cases of primary CH were detected giving the incidence of 1:2736. Recall rate was 2.3%. Replacement therapy with l-thyroxine was started after the confirmation of diagnosis. The median age at the initiation of replacement therapy was 23 days (range 7–35 days). Conclusion The incidence of CH is notably higher in Turkey than reported in most other countries. Iodine deficiency and/or dyshormonogenesis might contribute to this high incidence. This result emphasizes the necessity of a nationwide screening programme.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 653-655 
    ISSN: 1432-1076
    Keywords: Key words Gonadal dysgenesis ; Gonadoblastoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 46,XY gonadal dysgenesis was diagnosed in a 5.5-year-old phenotypically female patient who had physical and somatic stigmata of Turner syndrome such as webbed neck, low hairline, widely spaced nipples, cubitus valgus and coarctation of the aorta. Bilateral streak gonads were removed and an unsuspected gonadoblastoma was found in right gonad. Conclusion The prepubertal development of gonadal neoplasm in patient with XY gonadal dysgenesis indicates the necessity of gonadectomy at the time of diagnosis.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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