Annals of Pediatric Endocrinology & Metabolism最新文献

{"title":"The utilization of basal luteinizing hormone in combination with the basal luteinizing hormone and follicle-stimulating hormone ratio as a diagnostic tool for central precocious puberty in girls.","authors":"Nuntika Chotipakornkul,&nbsp;Witchuwan Onsoi,&nbsp;Nattakarn Numsriskulrat,&nbsp;Suphab Aroonparkmongkol,&nbsp;Vichit Supornsilchai,&nbsp;Khomsak Srilanchakon","doi":"10.6065/apem.2346072.036","DOIUrl":"https://doi.org/10.6065/apem.2346072.036","url":null,"abstract":"<p><strong>Purpose: </strong>Intravenous gonadotropin-releasing hormone (IV GnRH) testing is the gold standard for confirming a central precocious puberty (CPP) diagnosis. However, this test is not widely available commercially. Therefore, our study aim was to establish cutoff values for basal gonadotropin level and gonadotrophin responses to a 100-μg subcutaneous IV GnRH test that can distinguish between CPP and premature thelarche (PT) to discover a simple method to detect CPP.</p><p><strong>Methods: </strong>Girls between the ages of 6 and 8 years who attended the pediatric endocrinology outpatient clinic at our tertiary hospital between 2019 and 2022 were included in this study. They were evaluated for breast development, and a subcutaneous 100-μg GnRH test was administered by measuring the luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels in blood samples at baseline and then 30, 60, 90, and 120 minutes after injection. CPP is characterized by increased height velocity, advanced bone age, and progression of breast development. The cutoff value for diagnosis of CPP was determined using a receiver operating characteristic (ROC) analysis.</p><p><strong>Results: </strong>In 86 Thai girls (56 with CPP and 30 with PT), the ROC analysis showed 71.4% and 100% sensitivity and specificity, respectively, for basal LH (cutoff ≥ 0.2 IU/L) plus the basal LH/FSH ratio (cutoff ≥ 0.1). The optimal cutoff values for peak LH (cutoff ≥ 7 IU/L) demonstrated a sensitivity of 94.6% and a specificity of 100%, whereas the LH value at 30 and 60 minutes after injection (cutoff ≥ 6 IU/L) demonstrated sensitivities of 92.9% and 94.6% and a specificity of 100%, respectively.</p><p><strong>Conclusion: </strong>Combining the basal LH (cutoff: 0.2 IU/L) and the basal LH/FSH ratio (cutoff: 0.1) can easily and cost-effectively diagnose CPP in a girl in breast Tanner stage II.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ee/53/apem-2346072-036.PMC10329948.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9760400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Short-term effect of growth hormone treatment in childhood leukemia survivors with growth hormone deficiency.","authors":"Chungwoo Shin, Min Jeong Jang, Seongkoo Kim, Jae Wook Lee, Nack-Gyun Chung, Bin Cho, Min Ho Jung, Byung-Kyu Suh, Moon Bae Ahn","doi":"10.6065/apem.2244028.014","DOIUrl":"10.6065/apem.2244028.014","url":null,"abstract":"<p><strong>Purpose: </strong>Survivors of childhood leukemia are at risk of growth impairment due to intensive chemotherapy and radiation treatments. This study investigated the auxological and biochemical characteristics of childhood leukemia survivors diagnosed with growth hormone deficiency (GHD) and the changes in these parameters after 1 year of growth hormone (GH) treatment.</p><p><strong>Methods: </strong>A total of 24 children diagnosed with GHD after leukemia treatment was analyzed. Clinical and biochemical data were collected retrospectively at leukemia diagnosis, GHD diagnosis, and 1 year after GH treatment. Standard deviation score (SDS) was calculated based on the age- and gender-adjusted population.</p><p><strong>Results: </strong>Of the 24 children included in this study, 19 received GH treatment. The median age at GHD diagnosis was 12.3 years, and the median delay in bone age was 1.46 years. Height SDS decreased from -0.69 at leukemia diagnosis to -2.58 at GHD diagnosis (P<0.001). The change in height SDS with and without GH for 1 year was 0.35 and -0.21, respectively (P=0.044). In regression analyses, higher height SDS at GHD diagnosis and a smaller decrease of the height SDS between leukemia and GHD diagnoses were positively correlated with height SDS after GH treatment.</p><p><strong>Conclusion: </strong>GH treatment could be beneficial and safe for improving height in childhood leukemia survivors with GHD. Height SDS at GHD diagnosis and reduction of height SDS between leukemia and GHD diagnosis could be potential factors in predicting the therapeutic effects. Close auxological monitoring is recommended for any childhood leukemia survivors who experience posttreatment height decline.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/06/74/apem-2244028-014.PMC10329940.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9771366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of the COVID-19 pandemic lockdown on the physique of school-age children in Japan.","authors":"Junji Takaya,&nbsp;Hirohiko Higashino,&nbsp;Ryuzo Takaya,&nbsp;Hiromi Sakaguchi,&nbsp;Jitsuo Tanoue,&nbsp;Takashi Higashide,&nbsp;Hisako Moriguchi,&nbsp;Masatoshi Nakao,&nbsp;Yasuyuki Takai","doi":"10.6065/apem.2244228.114","DOIUrl":"https://doi.org/10.6065/apem.2244228.114","url":null,"abstract":"<p><strong>Purpose: </strong>Schools in Japan were closed nationwide from March to May 2020 because of the coronavirus disease 2019 (COVID-19) pandemic. Many suspect that this school closure affected children's mental and physical health. We investigated changes in school-age children's physiques to determine the effects of the COVID-19 lockdown and restrictions on their health.</p><p><strong>Methods: </strong>Data were extracted from a database of school physical examinations in Osaka elementary and junior high schools for 4 consecutive years from 2018 to 2021. The following characteristics were analyzed: short stature, tall stature, underweight, mild obesity, middle grade obesity, and severe obesity. The paired Student t-test was used to compare school examination data in the prepandemic period (2018-2019), pandemic lockdown (2019-2020), and post-lockdown period (2020-2021).</p><p><strong>Results: </strong>Obesity rates in elementary school students aged 6-12 years, particularly in boys, were significantly higher during the lockdown than they were in 2019. After the pandemic, the tall stature rate continued to rise, while rates of short stature and underweight decreased in both sexes in 2020. In junior high school students aged 12-15 years, rates of obesity and underweight tended to decrease in 2020. However, these rates rebounded and rose in 2021 when the lockdown was lifted.</p><p><strong>Conclusion: </strong>During the COVID-19 pandemic lockdown, elementary school students gained weight, while junior high school students lost weight. The lockdown that was implemented during the COVID-19 pandemic had an unfavorable effect on weight gain, particularly in young school-age children.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/07/32/apem-2244228-114.PMC10329943.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9760399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Denosumab use in osteogenesis imperfecta: an update on therapeutic approaches.","authors":"Fatma Majdoub,&nbsp;Hanene Lassoued Ferjani,&nbsp;Dorra Ben Nessib,&nbsp;Dhia Kaffel,&nbsp;Kaouther Maatallah,&nbsp;Wafa Hamdi","doi":"10.6065/apem.2346058.029","DOIUrl":"https://doi.org/10.6065/apem.2346058.029","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is an inherited skeletal disorder that leads to bone fragility and multiple fractures. Given advances in the genetic understanding of existing phenotypes and newly discovered mutations, therapeutic management of OI has become challenging. Denosumab, a monoclonal antibody that inhibits the interaction between the receptor activator of nuclear factor kappa B ligand (RANKL) and its receptor RANK, has been approved to treat postmenopausal osteoporosis and emerged as an important therapy for malignancies and other skeletal disorders, including pediatric skeletal conditions such as OI. This review summarizes information about denosumab therapy in OI by exploring its mechanisms of action, main indications, and safety and efficacy. Several case reports and small series have been published about the short-term use of denosumab in children with OI. Denosumab was considered a strong drug candidate for OI patients with bone fragility and a high risk of fracture, particularly for patients with the bisphosphonate (BP)-unresponsive OI-VI subtype. The evidence for denosumab's effects in children with OI indicates that it effectively improves bone mineral density but not fracture rates. A decrease in bone resorption markers was observed after each treatment. Safety was assessed by tracking the effects on calcium homeostasis and reporting side effects. No severe adverse effects were reported. Hypercalciuria and moderate hypercalcemia were reported, suggesting that BPs be used to prevent the bone rebound effect. In other words, denosumab can be used as a targeted intervention in children with OI. The posology and administration protocol require more investigation to achieve secure efficiency.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1e/a8/apem-2346058-029.PMC10329944.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9767022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cushing disease in pediatrics: an update.","authors":"Marcio José Concepción-Zavaleta,&nbsp;Cristian David Armas,&nbsp;Juan Eduardo Quiroz-Aldave,&nbsp;Eilhart Jorge García-Villasante,&nbsp;Ana Cecilia Gariza-Solano,&nbsp;María Del Carmen Durand-Vásquez,&nbsp;Luis Alberto Concepción-Urteaga,&nbsp;Francisca Elena Zavaleta-Gutiérrez","doi":"10.6065/apem.2346074.037","DOIUrl":"https://doi.org/10.6065/apem.2346074.037","url":null,"abstract":"<p><p>Cushing disease (CD) is the main cause of endogenous Cushing syndrome (CS) and is produced by an adrenocorticotropic hormone (ACTH)-producing pituitary adenoma. Its relevance in pediatrics is due to the retardation of both growth and developmental processes because of hypercortisolism. In childhood, the main features of CS are facial changes, rapid or exaggerated weight gain, hirsutism, virilization, and acne. Endogenous hypercortisolism should be established after exogenous CS has been ruled out based on 24-hour urinary free cortisol, midnight serum or salivary cortisol, and dexamethasone suppression test; after that, ACTH dependence should be established. The diagnosis should be confirmed by pathology. The goal of treatment is to normalize cortisol level and reverse the signs and symptoms. Treatment options include surgery, medication, radiotherapy, or combined therapy. CD represents a challenge for physicians owing to its multiple associated conditions involving growth and pubertal development; thus, it is important to achieve an early diagnosis and treatment in order to control hypercortisolism and improve the prognosis. Its rarity in pediatric patients has led physicians to have limited experience in its management. The objective of this narrative review is to summarize the current knowledge about the pathophysiology, diagnosis, and treatment of CD in the pediatric population.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/74/b6/apem-2346074-037.PMC10329946.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9767023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cutoff values of body mass index for severe obesity in Korean children and adolescents: the 99th percentile versus 120% of the 95th percentile.","authors":"Jaewon Choe,&nbsp;Jaehyun Kim,&nbsp;Jin Soo Moon","doi":"10.6065/apem.2244058.029","DOIUrl":"https://doi.org/10.6065/apem.2244058.029","url":null,"abstract":"<p><strong>Purpose: </strong>Several definitions for severe obesity have been used, primarily the 99th percentile of the body mass index (BMI) and 120% of the 95th BMI percentile. This study aimed to establish a standardized definition for severe obesity in children and adolescents in Korea.</p><p><strong>Methods: </strong>The 99th BMI percentile line and 120% of the 95th BMI percentile line were constructed using 2017 Korean National Growth Charts. To compare these 2 cutoff points for severe obesity, we included 9,984 individuals (5,289 males and 4,695 females) aged 10-18 years with anthropometric data available from the Korean National Health and Nutrition Examination Survey 2007-2018.</p><p><strong>Results: </strong>Although 120% of the 95th percentile of BMI is widely used as a definition of severe obesity, the 99th percentile is almost identical to 110% of the 95th percentile in Korea, according to the latest national BMI growth chart for children and adolescents. The prevalence rates of high blood pressure, high triglycerides, low high-density lipoprotein cholesterol, and high alanine aminotransferase in the participants whose BMI was ≥120% of the 95th percentile were higher than in those whose BMI was ≥99th percentile (P<0.001).</p><p><strong>Conclusion: </strong>A cutoff value for severe obesity of ≥120% of the 95th percentile is appropriate in children and adolescents in Korea. To provide follow-up care for severely obese children and adolescents, it is necessary to add a new line at 120% of the 95th percentile to the national BMI growth chart.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4d/59/apem-2244058-029.PMC10329941.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9772015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combination therapy of liothyronine and levothyroxine for hypothyroidism-induced dilated cardiomyopathy.","authors":"Youngha Choi,&nbsp;Se Yong Jung,&nbsp;Jung Min Park,&nbsp;Junghwan Suh,&nbsp;Eun Jung Shin,&nbsp;Hyun Wook Chae,&nbsp;Ho-Seong Kim,&nbsp;Ahreum Kwon","doi":"10.6065/apem.2142218.109","DOIUrl":"10.6065/apem.2142218.109","url":null,"abstract":"<p><p>Thyroid hormone plays a vital role in regulating human metabolism. They affect the functions of major organs, such as the brain, liver, skeletal muscle, and heart. Hypothyroidism can lead to dilated cardiomyopathy and decreased heart function. In this report, we describe a case of a teenage boy who developed dilated cardiomyopathy due to hypothyroidism and was considered to undergo heart transplantation. Levothyroxine monotherapy was initiated but produced no improvement. Thereafter, a combination therapy of liothyronine and levothyroxine was administered, and heart function was gradually restored; he recovered completely after 6 months. Cardiac myocytes respond more specifically to liothyronine than to levothyroxine. Therefore, we suggest that liothyronine and levothyroxine combination therapy should be considered rather than levothyroxine monotherapy for hypothyroidism accompanied by heart disease.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fa/c0/apem-2142218-109.PMC10329947.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9768487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary on &quot;Effect of gonadotropin-releasing hormone agonist treatment on near final height in girls with central precocious puberty and early puberty&quot.","authors":"Ahreum Kwon","doi":"10.6065/apem.2321125edi05","DOIUrl":"https://doi.org/10.6065/apem.2321125edi05","url":null,"abstract":"©2023 Annals of Pediatric Endocrinology & Metabolism This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ISSN: 2287-1012(Print) ISSN: 2287-1292(Online) The definition of precocious puberty (PP) is the onset of secondary sex characteristics before the age of 8 in girls and 9 in boys. The periodic administration of gonadotropinreleasing hormone (GnRH) agonists are recommended for patients with PP as the condition not only causes psychosocial problems but also results in a loss of final adult height. Several studies evaluated the efficacy of GnRH agonists, particularly on final height, in patients with PP. Recently, with the diversification of GnRH agonist types and the development of longacting depots, a comparison was made between the efficacy of 1-month and 3-month depots of GnRH agonists in girls with central PP. To achieve better final height, early initiation and a long duration of GnRH agonist treatment is recommended. The greatest benefit of GnRH agonist treatment is obtained in girls who begin treatment before the age of 6, while those who start treatment between the ages of 6 and 8 have varying outcomes. In contrast, early puberty (EP) is defined as the onset of secondary sex characteristics between the ages of 8–9 years in girls and 9–10 years in boys. Although the rapid progression of puberty in patients with EP also leads to loss of their final height, the efficacy of GnRH agonist treatment in these patients on final height has not yet been sufficiently defined. In several studies, the final adult height was reported to be similar between the group treated with GnRH agonists and the group without treatment in girls with EP. Yang et al. conducted a study on the effect of GnRH agonist treatment on near final height in girls with both central PP (CPP) and EP. Their results demonstrated that GnRH agonist treatment improved near final height not only in the CPP group but also in the EP group. In the EP group, GnRH agonist treatment also delayed bone age, with a greater difference between bone age and chronological age at the treatment start resulting in a better final height gain. This study is significant as it indicates that GnRH agonist treatment may aid in maintaining final height in patients with EP. However, since this contradicts previous research, it is too soon to draw definitive conclusions. Thus, larger-scale case-control prospective studies are required to confirm the efficacy of GnRH agonist treatment in patients with EP.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ab/46/apem-2321125edi05.PMC10073027.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10675120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors affecting bone mineral density in children and adolescents with secondary osteoporosis.","authors":"Min Jeong Jang,&nbsp;Chungwoo Shin,&nbsp;Seongkoo Kim,&nbsp;Jae Wook Lee,&nbsp;Nack-Gyun Chung,&nbsp;Bin Cho,&nbsp;Min Ho Jung,&nbsp;Byung-Kyu Suh,&nbsp;Moon Bae Ahn","doi":"10.6065/apem.2244026.013","DOIUrl":"https://doi.org/10.6065/apem.2244026.013","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the clinical factors associated with bone mineral density (BMD) among children and adolescents with osteoporosis secondary to treatment for underlying clinical conditions.</p><p><strong>Methods: </strong>We retrospectively reviewed the medical records of patients aged 10-18 years and evaluated them for lumbar spine BMD (LSBMD) after treatment for underlying diseases, including hemato-oncologic, rheumatologic system, and inflammator y bowel diseases. LSBMD measured by dual-energy x-ray absorptiometry (DXA) performed from March 2019 to March 2021 was evaluated. We analyzed 117 patients who underwent initial DXA after treatment for underlying diseases.</p><p><strong>Results: </strong>Subjects in this study had multiple underlying diseases: hemato-oncologic (78.6%), rheumatologic (11.1%), and inflammatory bowel diseases (10.3%). There was no significant association between the z-score and bone metabolic markers (P&gt;0.05). However, higher cumulative glucocorticoid (GC) dose significantly reduced LSBMD z-score (P=0.029). Moreover, the association between cumulative dose of GC and initial z-score of LSBMD was significant in logarithmic regression analysis (P=0.003, R2=0.149). GC accumulation was a significant risk factor for vertebral fracture when the initial BMD was evaluated after treatment (P=0.043). Bone metabolic markers did not significantly influence the risk of vertebral fracture.</p><p><strong>Conclusion: </strong>Initial bone mass density of the lumbar spine evaluated after long-term GC use for underlying diseases is a predictor of further vertebral fractures.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1b/b5/apem-2244026-013.PMC10073031.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9259923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.","authors":"Sukdong Yoo,&nbsp;Ju Young Yoon,&nbsp;Changwon Keum,&nbsp;Chong Kun Cheon","doi":"10.6065/apem.2142116.058","DOIUrl":"https://doi.org/10.6065/apem.2142116.058","url":null,"abstract":"<p><p>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&gt;G (p.Val455Gly) on exon 10, and c.374T&gt;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.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/b0/apem-2142116-058.PMC10073021.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9265089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}