SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure

Abstract

Introduction: Satoyoshi syndrome is a rare multisystemic disorder characterized by painful muscle spasms, alopecia universalis and diarrhea. Endocrine abnormalities associated with this syndrome include delayed puberty, primary amenorrhea and hypoplastic uterus and ovaries. It was first reported in 1967 in Japan with the majority of the cases affecting the Asian population, but cases in other ethnic groups have also been reported. It is a sporadic disease, with female to male ratio of two to one and mean age of onset of 10 years. The underlying etiology is unknown and is thought to be of an autoimmune nature. Case presentation: We report a case of a 27 year old Asian American female with Satoyoshi syndrome that was diagnosed at age 12, when she started to suffer from diffuse muscle spasms mostly in the neck, jaw, and lower extremities along with diarrhea and loss of hair. She received intravenous immunoglobulins (IVIG) and systemic corticosteroid therapy in the past and is currently on annual Rituximab infusion. She also takes Carbamazepine and Imodium for muscle contractions and diarrhea respectively. She had menarche at age 11 and recalls having one menstrual period only. This was followed by amenorrhea and hot flashes, both resolved after starting estrogen and progesterone therapy. She was also noted to have low bone density for which she takes vitamin D. For the past few years, she has been on Norethindrone acetate therapy and reported regular periods on it. She had normal anti-müllerian hormone level two years ago. On physical examination, she had diffuse muscle contractions most notably in the muscles of mastication. She also had global thinning of the hair without patches of hair loss. Breast examination showed Tanner stage V for breast development and pelvic examination showed Tanner stage IV for pubic hair growth. The remainder of her physical exam was normal. Her latest lab work showed luteinizing hormone level of 7.15 mIU/ml, follicular stimulating hormone of 9.60 mIU/ml and estradiol level of 33.4 pg/ml suggestive of normal ovarian function. Conclusion: Our patient had all the characteristic features of Satoyoshi syndrome except premature ovarian failure which is quite unusual for this syndrome. Fewer than 60 cases have been reported worldwide so far making it a diagnostic challenge.