Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial dise
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ORIGINAL ARTICLE
Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease Hyun-Wook Chae 1 & Ji-Hoon Na 1 & Ahreum Kwon 1 & Ho-Seong Kim 1 & Young-Mock Lee 1 Received: 16 April 2020 / Revised: 2 September 2020 / Accepted: 7 September 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract We retrospectively reviewed the data of 140 female pediatric patients with rare mitochondrial diseases (MDs) confirmed using muscle biopsy. We evaluated patients who were diagnosed with central precocious puberty (PP) with early pubertal development to determine whether PP is a clinical manifestation of MDs. We also examined the clinical, auxiological, laboratory, and radiological parameters after 1 year of gonadotropin-releasing hormone treatment for central PP. Among the 140 girls with MDs, 29 had early pubertal development and underwent endocrine evaluation. Ten (7.1%) patients were diagnosed with central PP; the prevalence of central PP was higher than was that previously thought. Patients with central PP exhibited bone age advancement over 1 year and increased sex hormone levels despite their young age at diagnosis. Serum estradiol levels were significantly higher in younger patients than in older patients (P = 0.004). Patients with central PP treated with gonadotropinreleasing hormone had favorable outcomes, and their pubertal development was suppressed for 1 year. Conclusion: Central PP may be a manifestation of endocrine dysfunction in young girls with MDs. What is Known: • The general characteristics of mitochondrial diseases include developmental delays and retarded growth. • Precocious puberty has rarely been suggested as a clinical manifestation of mitochondrial diseases. What is New: • Among the 140 girls with mitochondrial diseases, 10 (7.1%) were diagnosed with central precocious puberty. • Serum estradiol levels were significantly higher in younger patients than in older patients.
Keywords Mitochondrial diseases . Precocious puberty . Estradiol . Growth
Communicated by Peter de Winter * Young-Mock Lee [email protected] Hyun-Wook Chae [email protected] Ji-Hoon Na [email protected] Ahreum Kwon [email protected] Ho-Seong Kim [email protected] 1
Department of Pediatrics, Gangnam Severance Hospital, Severance Children’s Hospital, Yonsei University College of Medicine, 211 Eonjuro, Seodaemun-gu, Seoul, South Korea
Abbreviations E2 Estradiol FSH Follicular-stimulating hormone GnRH Gonadotropin-releasing hormone LH Luteinizing hormone MD Mitochondrial disease PP Precocious puberty
Introduction Mitochondrial diseases (MDs) are caused by dysfunctional mitochondria, often because of mutations either in mitochondrial deoxyribonucleic acid (mtDNA) or in the nuclear genes that code for respiratory chain complexes in the mitochondria. MDs exhibit heterogeneous progression and involve multiple organs, such as the ears, eyes, heart, intestine, muscle, brain, and endocrine organs. Patients with MDs most commonly present with neuromuscular symp
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