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[De La Chapelle syndrome].

O Dupuy1, M Palou, H Mayaudon

  • 1Service d'Endocrinologie, Hôpital d'Instruction des Armées Bégin, Saint-Mandé.

Presse Medicale (Paris, France : 1983)
|March 28, 2001
PubMed
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This summary is machine-generated.

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De La Chapelle syndrome, a cause of hypogonadism in XX males, presents with small testes but normal penis size. Most cases involve the SRY gene, explaining the male phenotype, though some remain unexplained.

Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • De La Chapelle syndrome, also known as XX male syndrome, is a rare condition characterized by a male phenotype in individuals with a 46,XX karyotype.
  • It results in peripheral hypogonadism, affecting sexual development and hormone production.

Purpose of the Study:

  • To retrospectively analyze the clinical, biological, and hormonal characteristics of 18 patients diagnosed with De La Chapelle syndrome.
  • To compare these findings with matched male and Klinefelter syndrome populations.

Main Methods:

  • Retrospective review of 18 cases of De La Chapelle syndrome.
  • Recording of clinical features (genitalia, body hair, gynecomastia), hormone levels (testosterone, gonadotropins, prolactin, estradiol), Barr test, and karyotype.

Related Experiment Videos

  • SRY gene analysis in 8 patients.

    • Main Results:

    • Nearly all patients exhibited microrchidia (small testes) with normal penis size.
    • Hypoandrogenism was common, and gynecomastia occurred in 50% of cases.
    • De La Chapelle syndrome patients lacked the dysmorphic features seen in Klinefelter syndrome.

    Conclusions:

    • De La Chapelle syndrome diagnosed in early adulthood does not typically involve ambiguous genitalia.
    • The presence of the SRY gene on an X chromosome explains the male phenotype in most XX males, but 20% lack this gene.
    • While the SRY gene is crucial, the syndrome's complexity and heterogeneity suggest other genetic factors may be involved; early androgen replacement therapy is recommended.