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Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan
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Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan
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Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
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Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
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Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan
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Objective
Ultra-sensitive hormone assays have detected slight sex differences in blood estradiol (E2) levels in young children before adrenarche. However, the origin of circulating E2 in these individuals remains unknown. This study aimed to clarify how E2 is produced in young girls before adrenarche.
Design
This is a satellite project of the Japan Environment and Children’s Study organized by the National Institute for Environmental Studies.
Methods
We collected blood samples from healthy 6-year-old Japanese children (79 boys and 71 girls). Hormone measurements and data analysis were performed in the National Institute for Environmental Studies and the Medical Support Center of the Japan Environment and Children’s Study, respectively.
Results
E2 and follicle stimulating hormone (FSH) levels were significantly higher in girls than in boys, while dehydroepiandrosterone sulfate (DHEA-S) and testosterone levels were comparable between the two groups. Girls showed significantly higher E2/testosterone ratios than boys. In children of both sexes, a correlation was observed between E2 and testosterone levels and between testosterone and DHEA-S levels. Moreover, E2 levels were correlated with FSH levels only in girls.
Conclusions
The results indicate that in 6-year-old girls, circulating E2 is produced primarily in the ovary from adrenal steroids through FSH-induced aromatase upregulation. This study provides evidence that female-dominant E2 production starts several months or years before adrenarche. The biological significance of E2 biosynthesis in these young children needs to be clarified in future studies.
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments. We performed with the French Reference Centers for Rare Diseases a multisite collaborative questionnaire survey for classic galactosemic patients. Its primary objective was to assess their puberty, pregnancy, gonadotropic axis, and pelvic morphology by ultrasound. The secondary objective was to determine predictive factors for pregnancy without oocyte donation. Completed questionnaires from 103 patients, 56 females (median age, 19 years (3–52 years)) and 47 males (median age, 19 years (3–45 years)), were analyzed. Among the 43 females older than 13 years old, mean age for breast development first stage was 13.8 years; spontaneous menarche occurred in 21/31 females at a mean age of 14.6 years. In these 21 women, 62% had spaniomenorrhea and 7/17 older than 30 years had amenorrhea. All age-groups confounded, FSH was above reference range for 65.7% of the patients, anti-Müllerian hormone and inhibin B were undetectable, and the ovaries were small with few or no follicles detected. Among the 5 females who sought to conceive, 4 had pregnancies. Among the 47 males, 1 had cryptorchidism, all have normal testicular function and none had a desire to conceive children. Thus, spontaneous puberty and POI are both common in this population. Spontaneous menarche seems to be the best predictive factor for successful spontaneous pregnancy.
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St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
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with CAH were collected in a standardized database. Later, the German Society for Paediatric Endocrinology and Diabetology (DGKED) took responsibility for the registry (DGKED-QS)). Until now 49 centers have participated in the DGKED-QS registry. Centers
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil
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Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil
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Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
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Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil
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Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
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Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
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1 Honour JW Steroid assays in paediatric endocrinology . Journal of Clinical Research in Pediatric Endocrinology 2010 2 1 – 16 . ( https://doi.org/10.4274/jcrpe.v2i1.1 ) 21274330 2 Dekkers OM Horváth-Puhó E Cannegieter SC
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Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-infantili, Università di Genova, Genova, Italy
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Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-infantili, Università di Genova, Genova, Italy
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Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-infantili, Università di Genova, Genova, Italy
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summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop . Journal of Clinical Endocrinology and Metabolism 2008 93 4210 – 4217 . ( https
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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aged 7–18 years: a nation-wide survey in China, 2014 . BMJ Open 2019 9 e026634. ( https://doi.org/10.1136/bmjopen-2018-026634 ) 5 Thomsett MJ The spectrum of clinical paediatric endocrinology: 28 years of referrals to an individual consultant
Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Institute of Medical Statistics and Informatics, Belgrade, Serbia
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University Children’s Clinic, Belgrade, Serbia
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University Children’s Clinic, Belgrade, Serbia
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Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia
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Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia
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Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia
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Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Institute of Pathology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia
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Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Monson JP Shalet SM Tauber M & European Society of Paediatric Endocrinology. Consensus statement on the management of the GH-treated adolescent in the transition to adult care . European Journal of Endocrinology 2005 152 165 – 170 . ( https