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Chromosomal complements in primary gonadal failure.

J A Portuondo, A Barral, J C Melchor

    Obstetrics and Gynecology
    |December 1, 1984
    PubMed
    Summary
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    Chromosomal abnormalities, including missing or anomalous X chromosomes, are frequent causes of primary amenorrhea and delayed sexual development. These conditions are associated with shorter stature and gonadal dysgenesis, necessitating comprehensive evaluation.

    Area of Science:

    • Reproductive Endocrinology
    • Human Genetics
    • Pediatric Endocrinology

    Background:

    • Primary amenorrhea and delayed sexual development can stem from various underlying causes.
    • Understanding the genetic and hormonal factors is crucial for diagnosis and management.
    • Gonadal development and function are key indicators in these conditions.

    Purpose of the Study:

    • To investigate the causes of primary amenorrhea or delayed sexual development.
    • To correlate chromosomal abnormalities with clinical and hormonal findings.
    • To evaluate the role of gonadal status in patients with primary gonadal failure.

    Main Methods:

    • Clinical, hormonal, endoscopic, and cytogenetic studies were performed on 29 patients.
    • Karyotype analysis, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) assays were conducted.

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  • Laparoscopy and gonadal biopsy were utilized in select cases.

    • Main Results:

    • 19 out of 29 patients had missing or anomalous X chromosomes, presenting with shorter stature (mean 141.9 cm) compared to those with normal complements (158.7 cm).
    • Somatic stigmas were more frequent in patients with chromosomal abnormalities and primary gonadal failure.
    • Streak gonads were observed in 79.3% of patients; gonadoblastoma occurred in two patients with XY or mixed gonadal dysgenesis. Elevated serum gonadotropin levels were noted in patients with streak gonads and absent germ cells.

    Conclusions:

    • Chromosomal abnormalities are significant contributors to primary amenorrhea and delayed sexual development.
    • Early diagnosis through karyotyping, hormonal assays, and gonadal assessment is vital for effective management.
    • Management of primary gonadal failure requires a multidisciplinary approach including genetic and endocrine evaluation.