Case Report

Evaluation and diagnostic approach in patient with Perrault Syndrome

Rachael Christin Nathania1, Steven Yulius Usman2, Ekarini Aryasatiani3
1Department of Obstetrics and Gynecology Assistant at Tarakan Regional General Hospital Jakarta, Indonesia, 2Obstetrics and Gynecology Assistant at St. Carolus Hospital Jakarta, Indonesia, 3Department of Obstetrics and Gynecology Tarakan Regional General Hospital Jakarta and St. Carolus Hospital Jakarta, Indonesia.

HIGHLIGHTS

1. The rare hereditary condition Perrault Syndrome is characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction
2. Cyclic estrogens and progesterone may be given to adolescents with amenorrhea to induce withdrawal bleeding and mimic the menstrual cycle.

ABSTRACT

Objectives: A multidisciplinary team, which included a reproductive endocrinologist and an otolaryngologist, identified Perrault Syndrome in a patient with secondary amenorrhea and bilateral sensorineural hearing loss.
Case Report: A 16-year-old female came with the main complaint of having not menstruated since one year ago, and currently, she cannot hear on both sides of the ear. Laboratory results showed an increase in Follicle Stimulating Hormone (FSH) levels (66.46 mIU/mL) and Luteinizing Hormone (LH) levels (29.97 mIU/mL). Symptomatic treatments have been given, such as bone hearing aids and estrogen replacement therapy.
Conclusion: The rare hereditary condition Perrault Syndrome is characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Ovarian dysfunction includes primary ovarian insufficiency (POI) and gonadal dysgenesis. Perrault Syndrome has a 46, XX karyotype. Additional tests such as karyotyping and anti-mullerian hormone (AMH) tests are not recommended because 60% of people with Perrault Syndrome who have been identified before cannot be diagnosed at the molecular level. In consultation with a pediatric endocrinologist, cyclic estrogens and progesterone may be given to adolescents with amenorrhea to induce withdrawal bleeding and mimic the menstrual cycle. Women at risk for ovarian failure should think about donor eggs, oocyte cryopreservation, and uterine size before considering pregnancy. Opioid drugs such as aminoglycosides and excessive noise, which can exacerbate hearing loss, are situations and agents that people with hearing loss should avoid.

Keywords: Secondary amenorrhea; bilateral sensorineural hearing loss; Perrault Syndrome; maternal health