While the pathophysiology of Idiopathic intracranial hypertension (IIH) is not fully characterized, a hormonally-mediated mechanism of development has been suggested in the literature. Cases detailing the natural history of IIH and subsequent CSF leak in transgender patients on exogenous testosterone provide key insights into the elusive pathophysiologic mechanism of development of this disease in all patients. Several cases of IIH in transgender patients have been reported, but few exist that document a cerebrospinal fluid (CSF) leak as a complication of IIH in this population.
We present the rare case of a 33-year-old obese female-to-male transgender patient on exogenous testosterone since 2009 who presented with 1-month of acute on chronic headache and profuse rhinorrhea. Fundoscopic exam revealed disc edema and pallor consistent with a Frisen Grade 3 papilledema. Nasal secretion was positive for beta-2-transferrin, a marker of CSF. Computed tomography (CT) head demonstrated a 5-mm defect in the medial left middle cranial fossa consistent with a CSF leak and abnormal arachnoid granulations concerning for IIH. An endoscopic endonasal repair of the left lateral sphenoid recess leak was successful and our patient reported resolution of his acute headache. However, at 1-month follow up, our patient reported reemergence of his headache and was started on acetazolamide 250mg twice daily. At 1-month follow up after starting acetazolamide, he noted improvement in symptoms.
This case of a spontaneous CSF leak and IIH a transgender male patient on exogenous testosterone implicates androgen excess in the development of this phenomenon in all patients. Additionally, this case helps maintain an important dialogue regarding the role physicians play in protecting and advancing healthcare equity and treatment of rare neurological diseases in transgender patients.