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Carvalho D Fonseca F Martins S Marques O Pereira BD Martinez-de-Oliveira J Lemos MC . High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism . Scientific Reports 2019 9 1597. ( https://doi.org/10.1038/s41598
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism – pathogenesis, diagnosis and treatment . Nature Reviews: Endocrinology 2015 11 547 – 564 . ( https://doi.org/10.1038/nrendo.2015.112 ) 26194704 4 Eggers S
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). Even lower BMD values were observed in males with congenital hypogonadotropic hypogonadism ( 28 ). A reduced peak bone mass was also reported in females with delayed puberty and amenorrhea ( 29 , 30 ). The importance of appropriate timing of puberty
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-3955(1636290-3 ) 15 Dwyer AA Quinton R Pitteloud N & Morin D . Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study . Sexual Medicine 2015 3 32 – 41 . ( https://doi.org/10.1002/sm2
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Grumbach MM Kaplan SL. Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated . Journal of Pediatrics 1999 134 579 – 583 . ( https://doi.org/10.1016/S0022
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, and constitutive pubertal delay from congenital hypogonadotropic hypogonadism in prepubertal males ( 19 ). Additionally, AMH levels may be useful for assessing testicular damage across the lifespan, pre- and post-chemotherapy interventions, as a
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receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia . Journal of Clinical Endocrinology and Metabolism 2006 91 4006 – 4012 . ( doi:10.1210/jc.2005-2793 ). 13 Asakura Y Muroya K Hanakawa J Sato
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Pitteloud N . Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support . Orphanet Journal of Rare Diseases 2014 9 83
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Dodé C Dunkel L Dwyer AA Giacobini P Hardelin JP Juul A , et al. Expert consensus document: European consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment . Nature Reviews. Endocrinology 2015
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anomalies) with ectopic posterior pituitary and variable LH/FSH, TSH and GH defects FGFR1 136350 AD Kallmann’s syndrome (KS) and normosmic congenital hypogonadotropic hypogonadism (nCHH), variable association with defects of other pituitary