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Ann Pediatr Endocrinol Metab > Accepted Articles
DOI: https://doi.org/10.6065/apem.2142116.058    [Accepted] Published online January 18, 2022.
The first case of novel variants of FSHR mutation causing primary amenorrhea in two siblings in Korea
Sukdong Yoo1  , Ju Young Yoon1, Changwon Keum2, Chong Kun Cheon1 
1Department of Pediatrics, Pusan National University School of Medicine
23Billion, Inc., Seoul, Korea
Address for correspondence:  Chong Kun Cheon
Email: chongkun@pusan.ac.kr
Received: May 22, 2021   Revised: August 20, 2021   Accepted: August 30, 2021
Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology clinic because of primary amenorrhea despite normal breast budding. Gonadotropin-releasing hormone stimulation test showed markedly elevated luteinizing hormone and follicle-stimulating hormone with a relatively low level of estrogen, suggesting hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a bicornuate uterus in patient 1 and uterine hypoplasia with thinning of the endometrium in patient 2. The progesterone challenge test revealed no withdrawal of bleeding. After two months of administration of combined oral contraceptives, menarche was initiated at regular intervals. To determine the genetic cause of amenorrhea in these patients, whole exome sequencing (WES) was performed, which revealed a compound heterozygous FSHR mutation, c.1364T>G (p.Val455Gly) on exon 10, and c.374T>G (p.Leu125Arg) on exon 4; both of which were novel mutations and were confirmed by Sanger sequencing. The patients maintained regular menstruation and improved bone mineral density while taking combined oral contraceptives, calcium, and vitamin D. Therefore, FSHR mutations can be the cause of amenorrhea in Koreans, and WES facilitates diagnosing the rare cause of amenorrhea.
Keywords: Amenorrhea, Hypogonadism, Follicle-stimulating hormone receptor


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