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Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor

Author
PRALONG, F. P1 ; GOMEZ, F1 ; CASTILLO, E1 ; COTECCHIA, S2 ; ABUIN, L2 ; AUBERT, M. L3 ; PORTMANN, L1 ; GAILLARD, R. C1
[1] Division of Endocrinology, Department of Medicine, University Hospital, 1011 Lausanne, Switzerland
[2] Institute of Pharmacology, University Hospital, 1011 Lausanne, Switzerland
[3] Division of Biology of Growth and Reproduction, University Hospital, 1211 Geneva, Switzerland
Source

The Journal of clinical endocrinology and metabolism. 1999, Vol 84, Num 10, pp 3811-3816 ; ref : 29 ref

CODEN
JCEMAZ
ISSN
0021-972X
Scientific domain
Endocrinology; Nutrition, obesity, metabolic disorders
Publisher
Endocrine Society, Bethesda, MD
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
Adulte Déterminisme génétique Etude cas Gonadotrophine RH Gène Hypogonadisme hypogonadotrope Inactivation Mutation ponctuelle Mâle Récepteur hormonal Suisse Appareil génital pathologie Endocrinopathie Facteur libération hormonale Homme Hormone hypothalamique Hypothalamus pathologie Europe
Keyword (en)
Adult Genetic determinism Case study Gonadotropin RH Gene Hypogonadotropic hypogonadism Inactivation Point mutation Male Hormonal receptor Switzerland Genital diseases Endocrinopathy Hormone releasing factor Human Hypothalamic hormone Hypothalamic diseases Europe
Keyword (es)
Adulto Determinismo genético Estudio caso Gonadotropina RH Gen Hipogonadismo hipogonadotropo Inactivación Mutación puntual Macho Receptor hormonal Suiza Aparato genital patología Endocrinopatía Factor liberación hormonal Hombre Hormona hipotalámica Hipotálamo patología Europa
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21A Hypothalamus. Hypophysis. Epiphysis (diseases) / 002B21A01 Non tumoral diseases. Target tissue resistance. Benign neoplasms

Discipline
Endocrinopathies
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
1974196

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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