Cantú Syndrome with Coexisting Familial Pituitary Adenoma

    January 2018 in “ Endocrine ”
    Pedro Marques, Rupert Spencer, Patrick J. Morrison, Ian Carr, Mary Dang, David T. Bonthron, Steven Hunter, Márta Korbonits
    Image of study
    TLDR Cantú syndrome may be linked to pituitary adenomas.
    This study described a three-generation family with 5 members affected by Cantú syndrome, characterized by acromegaloid facies and hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, exhibited marked hypertrichosis and coarsening facial features, but her GH axis was normal. Similarly, her father, paternal aunt, and half-sibling, who were evaluated for acromegaly, also had normal GH axes. However, two family members had non-functioning pituitary macroadenomas, a feature not previously associated with Cantú syndrome. The study highlighted the need for awareness among endocrinologists regarding the complex presentation of Cantú syndrome and its potential link to pituitary adenomas, which remains unclear.
    Discuss this study in the Community →

    Research cited in this study

    3 / 3 results

    Related Community Posts Join

    6 / 860 results

      community Being Safe on Oral Minoxidil: tl;dr on the literature.

      in Research/Science  47 upvotes 1 month ago
      Oral minoxidil is effective for hair loss but can cause cardiovascular side effects, such as pericardial effusion, especially in those with genetic predispositions. Starting with low doses and monitoring cardiovascular health are advised to reduce risks.

      community Post Finasteride Syndrome, A dangerous lie.

      in Chat  142 upvotes 11 months ago
      A user initially had side effects from finasteride, attributed them to anxiety and the nocebo effect, and after resuming the drug, experienced positive effects and now warns against misinformation about Post Finasteride Syndrome.
      [object Object]

      community Trying to understand finasteride side effects and post finasteride syndrome

      in Finasteride/Dutasteride  73 upvotes 4 years ago
      The conversation discusses the side effects of finasteride, including low libido and erectile dysfunction, and the possibility of these effects being permanent, known as post-finasteride syndrome (PFS). Some users report personal experiences with PFS and debate whether the condition is real, with varying opinions on the reversibility of side effects and the role of individual biology.

      community Just had this wild thought come into my head.

      in Satire  403 upvotes 11 months ago
      The conversation is about the debate over the existence of Post-Finasteride Syndrome (PFS) and its symptoms, with some users skeptical about PFS and others discussing side effects like erectile dysfunction and gynecomastia from hair loss treatments like finasteride. Specific treatments mentioned include finasteride, viagra, and a joke about using a popsicle stick for erectile support.

      community Progressive insomnia (treatment-resistant) due to Finasteride

      in Finasteride/Dutasteride  9 upvotes 2 years ago
      A medical student experienced hair loss slowing with Finasteride but developed severe, treatment-resistant insomnia. They tried various medications with little effect, suspecting Post-Finasteride Syndrome, and others suggested the insomnia might be linked to Finasteride's impact on neurosteroids.

    Related Research

    1 / 1 results