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Thyroid hemiagenesis in two sisters.

H O Rajmil, J Rodríguez-Espinosa, J Soldevila

    Journal of Endocrinological Investigation
    |August 1, 1984
    PubMed
    Summary
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    Two sisters presented with thyroid hemiagenesis, a condition where one lobe of the thyroid is absent. Familial occurrence suggests a genetic basis for this thyroid abnormality.

    Area of Science:

    • Endocrinology
    • Genetics
    • Thyroidology

    Background:

    • Thyroid hemiagenesis is a rare congenital anomaly characterized by the unilateral absence of a thyroid lobe.
    • Understanding its etiology and familial occurrence is crucial for diagnosis and management.

    Observation:

    • Two sisters presented with thyroid hemiagenesis, exhibiting a diffusely enlarged right thyroid lobe and absence of the left lobe and isthmus.
    • Thyroid scans revealed similar morphological characteristics in both affected individuals.
    • Both patients were clinically euthyroid with normal basal thyroid hormones and TSH levels.

    Findings:

    • Despite normal basal thyroid function, both patients showed an exaggerated thyroid-stimulating hormone (TSH) response to thyrotropin-releasing hormone (TRH) administration.

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  • The consistent presentation and functional characteristics in both sisters suggest a shared underlying cause.

    • Implications:

    • The familial occurrence and similar presentation strongly suggest a genetic determination for thyroid hemiagenesis.
    • This finding may contribute to understanding the genetic factors influencing thyroid development and morphology.
    • Further research into the genetic basis of thyroid hemiagenesis could aid in early diagnosis and genetic counseling.