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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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c.2270A>G, p.Asn757Ser Hemi M XR LP 0.000008892 0 8945 1 month Hyperpigmentation, cryptorchidism, electrolyte disturbance NM_000475.4 NR0B1 c.1169-2Ala>Gly Hemi De novo XL P / / 9052 1 year Female

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0029
Volume/Issue:
Volume 12: Issue 10
Open access
Nathalia Liberatoscioli Menezes Andrade Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Mariana Ferreira de Assis Funari Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexsandra Christianne Malaquias Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Paulo Ferrez Collett-Solberg Disciplina de Endocrinologia, Departamento de Medicina Interna, Faculdade de Ciências Medicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brasil

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Nathalia L R A Gomes Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Renata Scalco Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Naiara Castelo Branco Dantas Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Raissa C Rezende Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Angelica M F P Tiburcio Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Micheline A R Souza Serviço de Endocrinologia do Instituto de Puericultura e Pediatria Martagao Gesteira/Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil

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Bruna L Freire Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Ana C V Krepischi Centro de Pesquisa em Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de Sao Paulo, São Paulo, Brasil

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Carlos Alberto Longui Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Antonio Marcondes Lerario Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Gabriela Andrade Vasques Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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laboratory tests, including a complete blood count, creatinine, electrolytes, alkaline phosphatase, albumin, screening for celiac disease, TSH, free T4, and IGF-1 levels determination. A karyotype was performed in all girls to exclude Turner syndrome. Growth

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0214
Volume/Issue:
Volume 11: Issue 12
Open access