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Related Experiment Videos

[Incomplete androgen insensitivity].

Andrea Luczay1, János Sólyom, Olaf Hiort

  • 1Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Gyermekgyógyászati Klinika, Budapest.

Orvosi Hetilap
|November 30, 2006
PubMed
Summary
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Androgen insensitivity syndrome (AIS) in a 46,XY individual presents with female-like genitalia. Genetic analysis confirmed AIS, but the mutation

Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Androgen insensitivity syndrome (AIS) impairs androgen effects despite normal testosterone levels.
  • Mutations in the androgen receptor gene are the usual cause of AIS.

Observation:

  • A 46,XY individual presented with external genitalia resembling female anatomy, with palpable masses in the labioscrotal fold.
  • No testosterone level elevation was observed in the first three months of life.

Findings:

  • Stanazolol stimulation tests and androgen receptor gene analysis confirmed androgen insensitivity.
  • The androgen receptor gene mutation was not detected in the mother's leukocytes.

Implications:

  • This case highlights the diagnostic complexities of androgen insensitivity syndrome.

Related Experiment Videos

  • The absence of maternal mutation complicates genetic counseling for this family.