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Two XX male brothers.

S Minowada, K Kobayashi, K Isurugi

    Clinical Genetics
    |May 1, 1979
    PubMed
    Summary
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    Two brothers with XX male syndrome and penoscrotal hypospadias were found to have normal female karyotypes and testes. Familial occurrence and genetic factors are discussed.

    Area of Science:

    • Genetics
    • Endocrinology
    • Pediatric Surgery

    Background:

    • XX male syndrome is a rare condition where individuals with a female karyotype develop male characteristics.
    • Penoscrotal hypospadias is a congenital anomaly affecting the development of the penis and scrotum.

    Observation:

    • Two brothers diagnosed with XX male syndrome and penoscrotal hypospadias were studied.
    • Chromosomal analysis confirmed a normal female karyotype (46,XX) in both siblings.
    • Testicular biopsies revealed normal immature testes without ovarian structures; internal female reproductive organs were absent.

    Findings:

    • Endocrine studies, including serum gonadotropins (LH and FSH) and testosterone levels, were normal for their age.
    • Response to luteinizing hormone-releasing hormone (LH-RH) and human chorionic gonadotropin (hCG) stimulation tests were within normal limits.

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  • Genetic marker studies were conducted on the probands and their parents.

    • Implications:

    • This case highlights the complex genetic mechanisms underlying XX male syndrome.
    • The familial occurrence suggests potential inherited factors contributing to the condition.
    • Understanding these genetic and endocrine pathways is crucial for diagnosis and management.