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Adrenal hypofunction and trisomy 18.

M Turner, C O'Herlihy

    Obstetrics and Gynecology
    |March 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Trisomy 18 cases showed reduced maternal estrogen and fetal adrenal hypoplasia. These findings may explain complications like prolonged pregnancies and the need for obstetric intervention in infants with trisomy 18.

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    Area of Science:

    • Genetics
    • Perinatology
    • Endocrinology

    Background:

    • Trisomy 18 (Edwards syndrome) is a severe genetic disorder associated with significant prenatal and neonatal complications.
    • Fetoplacental function and fetal adrenal development are critical for successful pregnancy outcomes.

    Observation:

    • Three cases of trisomy 18 were analyzed, focusing on fetoplacental function and fetal adrenal development.
    • Reduced 24-hour maternal urinary estrogen levels were observed in all three cases, indicating diminished fetoplacental function.

    Findings:

    • All infants diagnosed with trisomy 18 exhibited hypoplasia of the fetal adrenal cortical zone, both grossly and microscopically.
    • This adrenal abnormality correlates with the observed diminished fetoplacental function.

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    Implications:

    • The findings suggest a link between fetal adrenal hypoplasia, impaired fetoplacental function, and adverse outcomes in trisomy 18.
    • Understanding these mechanisms may inform obstetric management and improve prognostication for trisomy 18 pregnancies.