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Related Experiment Videos

[Hirsutism: differential diagnosis].

José Antonio M Marcondes1

  • 1Serviço de Endocrinologia e Metabologia, HCFMUSP, São Paulo, SP. marcondesmd@uol.com.br

Arquivos Brasileiros De Endocrinologia E Metabologia
|January 16, 2007
PubMed
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Hirsutism, a symptom of hyperandrogenism, was evaluated in a patient with elevated 17-OHP. Polycystic ovary syndrome was diagnosed, while non-classic congenital adrenal hyperplasia was excluded.

Area of Science:

  • Endocrinology
  • Reproductive Medicine

Background:

  • Hirsutism is a key sign of hyperandrogenic syndromes.
  • Hyperandrogenic syndromes are categorized as virilizing or non-virilizing.
  • A systematic approach aids in diagnosing the underlying cause of hirsutism.

Observation:

  • A case presented with hirsutism and elevated 17-hydroxyprogesterone (17-OHP) levels, both at baseline and after ACTH stimulation.
  • Absence of virilization and specific clinical history ruled out ovarian tumors and hyperthecosis.
  • Menstrual irregularities and hyperandrogenemia pointed away from idiopathic hirsutism.

Findings:

  • The patient met the Rotterdam criteria for Polycystic Ovary Syndrome (PCOS).
  • A short ACTH stimulation test showed post-stimulus 17-OHP levels of 14 ng/dL.

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  • While borderline, CYP21A2 gene sequencing excluded non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency, as promoter mutations are rare.

    • Implications:

    • This case highlights the diagnostic challenges in differentiating PCOS from NCAH in patients with hirsutism.
    • Accurate diagnosis is crucial for appropriate management of hyperandrogenic conditions.
    • Genetic testing, alongside hormonal assays, is vital for definitive diagnosis.