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D Santi Unit of Endocrinology, Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Unit of Endocrinology, Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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A R M Granata Unit of Endocrinology, Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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M Simoni Unit of Endocrinology, Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Unit of Endocrinology, Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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hypogonadotropic hypogonadism . Journal of Clinical Endocrinology and Metabolism 2013 98 E1790 – E1795 . ( doi:10.1210/jc.2013-2518 ). 25 Goldman MB Thornton KL Ryley D Alper MM Fung JL Hornstein MD Reindollar RH . A randomized clinical trial

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Kristian Almstrup Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Hanne Frederiksen Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anna-Maria Andersson Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Papadakis GE Santoni FA Dwyer AA Santini S Sykiotis GP Chambion C , et al . Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures . European Journal of Endocrinology 2018

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Zofia Kolesinska Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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James Acierno Jr Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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S Faisal Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK

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Cheng Xu Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Karina Kapczuk Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland

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Anna Skorczyk-Werner Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Hanna Mikos Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Aleksandra Rojek Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Andreas Massouras Saphetor, SA, Lausanne, Switzerland

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Maciej R Krawczynski Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Pitteloud Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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sequence variants in human disease’ ( 18 ). Following other studies on the genetic etiology of 46,XY DSD ( 6 , 7 ), we also evaluated a list of 21 genes implicated in congenital hypogonadotropic hypogonadism (CHH) (Supplementary Table 1, see section on

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Hiren Patt Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Katrin Koehler Department of Paediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Sailesh Lodha Eternal Hospital, Jaipur, Rajasthan, India

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Swati Jadhav Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Chaitanya Yerawar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Angela Huebner Department of Paediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Kunal Thakkar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Sneha Arya Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Sandhya Nair Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Manjunath Goroshi Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Hosahithlu Ganesh Department of Endocrinology, AJ Institute of Medical sciences, Mangalore, India

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Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bengaluru, India

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Anurag Lila Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Tushar Bandgar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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Nalini Shah Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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K Elouej S Messaoud O Bouyacoub Y Romdhane L Turki Z Abdelhak S A Tunisian patient with two rare syndromes: triple A syndrome and congenital hypogonadotropic hypogonadism . Hormone Research in Paediatrics 2014 82 338 – 343 . ( doi:10

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Milou Cecilia Madsen Department of Internal Medicine and Center of Expertise on Gender Dysphoria, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands

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Martin den Heijer Department of Internal Medicine and Center of Expertise on Gender Dysphoria, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands

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Claudia Pees Walaeus Library, Leiden University Medical Center, Leiden, the Netherlands

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Nienke R Biermasz Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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Leontine E H Bakker Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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Testosterone esters (TE) (Sustanon 250 mg every 3 weeks)/none 39 men with congenital hypogonadotropic hypogonadism vs 40 age-matched eugonadal men 6 months Improvement of sexual function Significant increase in BMI  Benito 2005 (84

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Yijun Tang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yao Chen Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jiayi Wang Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Qianwen Zhang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yirou Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yufei Xu Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xin Li Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jian Wang International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xiumin Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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.ejmg.2021.104154 ) 39 Wang Y Qin M Fan L & Gong C . Correlation analysis of genotypes and phenotypes in Chinese male pediatric patients with congenital hypogonadotropic hypogonadism . Frontiers in Endocrinology 2022 13 846801 . ( https

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