Amenorrhea due to aqueductal stenosis: Case report and scoping review

Michiels Lisse, 2025
Hydrocephalus is a condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricular system of the brain, often caused by conditions such as aqueductal stenosis. The increasing intracranial pressure can lead to several rare endocrine symptoms, including amenorrhea - the absence of menstruation - and delayed puberty. Worldwide, fewer than 60 cases have been described of patients with hydrocephalus presenting with amenorrhea. This makes it an underreported condition which is difficult to recognize while it can have profound effects on the physical and emotional health of young women. Providing adequate medical care and emotional support can significantly improve quality of life. This includes both promoting the recovery of the menstrual cycle and reducing the psychological burden resulting from incomplete pubertal development or infertility. The main purpose of this study is to determine how long it takes after treatment for hydrocephalus before menstruation (re-)occurs. In most documented cases, hormonal values normalize relatively quickly after therapy with a median duration of 60 days until the occurrence of menstruation, although longer intervals – up to several years - have also been reported. If laboratory results and imaging are reassuring, this longer interval is not a cause for concern and does not immediately require treatment. In this case, healthcare providers should primarily counsel patients if menstruation is delayed slightly longer than expected. This highlights the importance of early diagnosis and treatment to alleviate endocrine symptoms. Collaboration with specialized medical centers, where patients have access to a multidisciplinary team of healthcare providers - such as neurologists, endocrinologists and gynecologists - is essential to effectively treat both hydrocephalus and the symptoms of amenorrhea. Medical assistance includes diagnostic tests - such as MRI and CT scans - and treatment options - such as hormonal therapy or surgical procedures - tailored to the patient. It is crucial to make doctors aware of this rare condition and the need for MRI examination in patients with hypogonadotropic hypogonadism. The publication of research findings contributes to the advancement of knowledge. On the other hand, organizing workshops, lectures and educational sessions for general practitioners, gynecologists, neurologists and pediatricians can help them recognize signs of hydrocephalus combined with amenorrhea more quickly and take appropriate diagnostic steps. Women diagnosed with aqueductal stenosis should be promptly referred to a neurosurgeon for an endoscopic third ventriculostomy (ETV) or ventricular shunt diversion. Awareness increases knowledge about the role of these procedures and emphasizes the importance of follow-up - with hormonal blood tests and brain imaging - to ensure optimal recovery of the menstrual cycle. If menstruation is expected to recover shortly after surgery, discussing contraceptive options with the patient may be important both before and after surgery. This social approach focuses on raising awareness about the rare endocrine disorders that can occur in patients with chronic hydrocephalus in general and amenorrhea and delayed puberty in particular. The goal is to better inform both medical professionals and the broader public on the symptoms, the diagnosis and treatment options of these conditions. The ultimate targets are faster diagnosis, better treatment outcomes and a higher quality of life for affected patients.

Promotor Tjalina Hamerlynck
Opleiding Geneeskunde
Kernwoorden Hydrocephalus Amenorrhea aqueductal stenosis endoscopic third ventriculostomy (ETV) ventricular shunt