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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; Ferrara, Jean-Marc; Hauschild, Michael; Lang-Muritano, Mariarosaria; Lemke, Johannes R; Flück, Christa; Nemeth, Attila; Phan-Hug, Franziska; Pignatelli, Duarte; Popovic, Vera; Pekic, Sandra; Quinton, Richard; Szinnai, Gabor; l'Allemand, Dagmar; Konrad, Daniel; Sharif, Saba; Iyidir, Özlem Turhan; Stevenson, Brian J; Yang, Huanming; Dunkel, Leo; Pitteloud, Nelly.
Afiliación
  • Cassatella D; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Howard SR; Faculty of Biology and MedicineUniversity of Lausanne, Lausanne, Switzerland.
  • Acierno JS; Centre for EndocrinologyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Xu C; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Papadakis GE; Faculty of Biology and MedicineUniversity of Lausanne, Lausanne, Switzerland.
  • Santoni FA; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Dwyer AA; Faculty of Biology and MedicineUniversity of Lausanne, Lausanne, Switzerland.
  • Santini S; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Sykiotis GP; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Chambion C; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Meylan J; Faculty of Biology and MedicineUniversity of Lausanne, Lausanne, Switzerland.
  • Marino L; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Favre L; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Li J; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Liu X; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Zhang J; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Bouloux PM; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Geyter C; BGI-ShenzhenShenzhen, China.
  • Paepe A; Shenzhen Key Laboratory of NeurogenomicsBGI-Shenzhen, Shenzhen, China.
  • Dhillo WS; BGI-ShenzhenShenzhen, China.
  • Ferrara JM; BGI-ShenzhenShenzhen, China.
  • Hauschild M; Shenzhen Key Laboratory of NeurogenomicsBGI-Shenzhen, Shenzhen, China.
  • Lang-Muritano M; Centre for Neuroendocrinology (Royal Free Campus)University College London, London, UK.
  • Lemke JR; University Hospital BaselClinic of Gynecological Endocrinology and Reproductive Medicine, Basel, Switzerland.
  • Flück C; Center for Medical GeneticsGhent University Hospital, Ghent, Belgium.
  • Nemeth A; Section of Investigative MedicineImperial College London, Hammersmith Hospital, London, UK.
  • Phan-Hug F; Rue du Curtil-MailletYverdon-les-Bains, Switzerland.
  • Pignatelli D; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Popovic V; Division of Pediatric Endocrinology and Diabetology and Children's Research CentreUniversity Children's Hospital, Zurich, Switzerland.
  • Pekic S; Institute of Human GeneticsUniversity of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Quinton R; Pediatric Endocrinology and DiabetologyDepartment of Clinical Research, University Children's Hospital Bern, Bern, Switzerland.
  • Szinnai G; St. John's HospitalBudapest, Hungary.
  • l'Allemand D; Service of EndocrinologyDiabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Konrad D; Serviço de EndocrinologiaDiabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Porto, Portugal.
  • Sharif S; School of MedicineUniversity of Belgrade, Belgrade, Serbia.
  • Iyidir ÖT; School of MedicineUniversity of Belgrade, Belgrade, Serbia.
  • Stevenson BJ; Clinic for EndocrinologyDiabetes and Diseases of Metabolism, University Clinical Center, Belgrade, Serbia.
  • Yang H; Department of EndocrinologyInstitute for Human Genetics, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, UK.
  • Dunkel L; University of Basel Chidren's HospitalBasel, Switzerland.
  • Pitteloud N; Department of EndocrinologyChildren's Hospital of Eastern Switzerland, St Gallen, Switzerland.
Eur J Endocrinol ; 178(4): 377-388, 2018 Apr.
Article en En | MEDLINE | ID: mdl-29419413
OBJECTIVE: Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is poorly understood. DESIGN: We characterized and compared the genetic architectures of CHH and CDGP, to test the hypothesis of a shared genetic basis between these disorders. METHODS: Exome sequencing data were used to identify rare variants in known genes in CHH (n = 116), CDGP (n = 72) and control cohorts (n = 36 874 ExAC and n = 405 CoLaus). RESULTS: Mutations in at least one CHH gene were found in 51% of CHH probands, which is significantly higher than in CDGP (7%, P = 7.6 × 10-11) or controls (18%, P = 5.5 × 10-12). Similarly, oligogenicity (defined as mutations in more than one gene) was common in CHH patients (15%) relative to CDGP (1.4%, P = 0.002) and controls (2%, P = 6.4 × 10-7). CONCLUSIONS: Our data suggest that CDGP and CHH have distinct genetic profiles, and this finding may facilitate the differential diagnosis in patients presenting with delayed puberty.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pubertad Tardía / Trastornos del Crecimiento / Hipogonadismo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pubertad Tardía / Trastornos del Crecimiento / Hipogonadismo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Reino Unido