TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 5, 2010, Pages 2287-2295

  Young, Jacques ^a,b,c   Bouligand, Jérôme ^a,b,c   Francou, Bruno ^a,b,c   Raffin Sanson, Marie Laure ^d,e,g   Gaillez, Stéphanie ^f   Jeanpierre, Marc ^g   Grynberg, Michael ^a   Kamenicky, Peter ^a,b,c   Chanson, Philippe ^a,b,c   Brailly Tabard, Sylvie ^a,b,c   Guiochon Mantel, Anne ^a,b,c  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b BICÊTRE HOSPITAL   (France)

^c Institut National de la Santéet de la Recherche Médicale Unité 693   (France)

^d HÔPITAL AMBROISE PARÉ   (France)

^e LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^f Centre de Génétique Humaine   (Belgium)

^g INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; GONADORELIN; GONADOTROPIN; INHIBIN B; LUTEINIZING HORMONE; NEUROKININ 3 RECEPTOR; NEUROKININ B; TAC3 PROTEIN; TACHYKININ; TACHYKININ RECEPTOR; TACR3 PROTEIN; TESTOSTERONE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONGO; DISSOCIATION; ESTRADIOL BLOOD LEVEL; FEMALE; FEMALE FERTILITY; FOLLITROPIN BLOOD LEVEL; GENE DELETION; GONADOTROPIN BLOOD LEVEL; GONADOTROPIN DEFICIENCY; HAITI; HAPLOTYPE; HOMOZYGOTE; HORMONE RELEASE; HORMONE RESPONSE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS FUNCTION DISORDER; INTRON; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MALE FERTILITY; MICROPENIS; MISSENSE MUTATION; PATIENT IDENTIFICATION; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROVOCATION TEST; RNA SPLICING; SIBLING; SIGNAL TRANSDUCTION; TESTOSTERONE BLOOD LEVEL; AMENORRHEA; BLOOD; BREAST; CASE REPORT; CONGENITAL MALFORMATION; CONSANGUINITY; GENETICS; GROWTH, DEVELOPMENT AND AGING; HYPOGONADISM; PATHOPHYSIOLOGY; PEDIGREE; PENIS;

ADULT; AMENORRHEA; AMINO ACID SUBSTITUTION; BREAST; CONSANGUINITY; FEMALE; FOLLICLE STIMULATING HORMONE; GENE DELETION; HOMOZYGOTE; HUMANS; HYPOGONADISM; INTRONS; LUTEINIZING HORMONE; MALE; MUTATION, MISSENSE; NEUROKININ B; PEDIGREE; PENIS; RECEPTORS, NEUROKININ-3; TESTOSTERONE;

EID: 77952769687     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2600     Document Type: Article

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