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Introduction Combined pituitary hormone deficiencies (CPHD) are defined as the deficiency of two or more pituitary hormones. They can be associated with complex phenotypes such as cranial/facial midline defects and other extra-pituitary features
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Introduction Combined pituitary hormone deficiency (CPHD) is characterized by growth hormone deficiency (GHD) associated with a shortage of at least one other pituitary hormone ( 1 ). The etiology of CPHD is complex, including acquired
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deficiency (IGHD) to combined pituitary hormone deficiencies (CPHD). CH also varies with respect to hypothalamic–pituitary anatomy from normal magnetic resonance imaging to the presence of midline defects such as pituitary stalk interruption syndrome (PSIS
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National and Kapodistrian University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece
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candidate. Regarding combined pituitary hormone deficiency (CPHD), also known as panhypopituitarism, this disorder is possibly detectable in several of the seven dwarfs’ clinical manifestations. Indeed, it is probable that the illustrators of the movie
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Combined pituitary hormone deficiencies AD, AR LHX3 600577 Combined pituitary hormone deficiencies AR LHX4 602146 Combined pituitary hormone deficiencies AD SOX3 313430 Panhypopituitarism XLR OTX2 600037
The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel
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association with a combined pituitary hormone deficiency, suggesting that BMP4 participates in an early stage of pituitary development by inducing the formation of Rathke's pouch ( 27 , 28 , 29 ). Other than a subaortic membrane, atrial septal defect, severe
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Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
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.39%) Familial cases 36 (25.1%) BMC, body mass control; CPHD, combined pituitary hormone deficiency; F, female; GHD, growth hormone deficiency; M, male; PP, posterior pituitary. Hormonal evaluation was performed, and the diagnosis of GHD
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the pituitary gland in two unrelated patients and combined pituitary hormone deficiency in 8% of a Japanese cohort with CHARGE syndrome ( 16 , 17 ). Advanced medical and surgical treatment has allowed for life-threatening malformations such as
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Pfäffle R Klammt J . Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency . Best Practice and Research. Clinical Endocrinology and Metabolism 2011 25 43 – 60 . ( https://doi.org/10.1016/j.beem.2010.10.014 ) 10
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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands
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Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands
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Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands
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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
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) 1:10,000 (incidence) (46) 3 Anterior pituitary Combined pituitary hormone deficiency 1:8000 (prevalence) (47) 7 Isolated growth hormone deficiency 1:4000–10,000 (incidence) (48) 1 Prolactinoma 1